2. Gene
  3. MACROH2A1 - macroH2A.1 histone Gene

MACROH2A1 - macroH2A.1 histone Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as H2A.y; H2A/y; H2AFY; mH2A1; H2AF12M; MACROH2A1.1; macroH2A1.2

Gene ID: 9555 | Gene type: protein coding

About MACROH2A1

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:135,334,381-135,399,887 (from NCBI)

This gene has 22 transcripts (splice variants), 199 orthologues, 27 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 29.8), esophagus (RPKM 11.4) and 24 other tissues.

Summary

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

MACROH2A1 Products(8)

mRNA Protein Name
NM_001040158.2 NP_001035248.1 core histone macro-H2A.1 isoform 2
NM_001400401.1 NP_001387330.1 core histone macro-H2A.1 isoform 3
NM_001400402.1 NP_001387331.1 core histone macro-H2A.1 isoform 3
NM_001400403.1 NP_001387332.1 core histone macro-H2A.1 isoform 4
NM_001400404.1 NP_001387333.1 core histone macro-H2A.1 isoform 5
NM_004893.3 NP_004884.1 core histone macro-H2A.1 isoform 2
NM_138609.3 NP_613075.1 core histone macro-H2A.1 isoform 1
NM_138610.3 NP_613258.2 core histone macro-H2A.1 isoform 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ADP-D-ribose binding IDA
IDA: Inferred from direct assay
15902274 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23595991 GOA
enables chromatin DNA binding IDA
IDA: Inferred from direct assay
19734898 GOA
enables double-stranded methylated DNA binding IDA
IDA: Inferred from direct assay
24071584 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
26373281 GOA
enables nucleosomal DNA binding IDA
IDA: Inferred from direct assay
20008927 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22391447 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
22194607 GOA
enables protein serine/threonine kinase inhibitor activity IMP
IMP: Inferred from mutant phenotype
22194607 GOA
enables rDNA binding IDA
IDA: Inferred from direct assay
24071584 GOA
enables structural constituent of chromatin IDA
IDA: Inferred from direct assay
21211722 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
19734898 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA repair IDA
IDA: Inferred from direct assay
21211722 GOA
involved in epigenetic regulation of gene expression IMP
IMP: Inferred from mutant phenotype
20008927 GOA
involved in establishment of protein localization to chromatin IMP
IMP: Inferred from mutant phenotype
19734898 GOA
involved in negative regulation of cell cycle G2/M phase transition IMP
IMP: Inferred from mutant phenotype
22194607 GOA
involved in negative regulation of gene expression, epigenetic IMP
IMP: Inferred from mutant phenotype
19734898 GOA
involved in negative regulation of protein localization to chromosome, telomeric region IDA
IDA: Inferred from direct assay
26373281 GOA
involved in negative regulation of protein serine/threonine kinase activity IMP
IMP: Inferred from mutant phenotype
22194607 GOA
involved in negative regulation of response to oxidative stress IMP
IMP: Inferred from mutant phenotype
23022728 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
19734898 GOA
involved in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I IGI
IGI: Inferred from genetic interaction
24071584 GOA
involved in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
IMP: Inferred from mutant phenotype
24071584 GOA
involved in positive regulation of endodermal cell differentiation IMP
IMP: Inferred from mutant phenotype
23595991 GOA
involved in positive regulation of keratinocyte differentiation IMP
IMP: Inferred from mutant phenotype
23595991 GOA
involved in positive regulation of maintenance of mitotic sister chromatid cohesion IDA
IDA: Inferred from direct assay
26373281 GOA
involved in positive regulation of response to oxidative stress IMP
IMP: Inferred from mutant phenotype
23022728 GOA
involved in regulation of lipid metabolic process IMP
IMP: Inferred from mutant phenotype
25526730 GOA
NOT involved in regulation of rDNA heterochromatin formation IMP
IMP: Inferred from mutant phenotype
24071584 GOA
involved in regulation of response to oxidative stress IMP
IMP: Inferred from mutant phenotype
23022728 GOA
involved in transcription initiation-coupled chromatin remodeling IMP
IMP: Inferred from mutant phenotype
25526730 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Barr body IDA
IDA: Inferred from direct assay
11331621 GOA
located in chromatin IDA
IDA: Inferred from direct assay
19734898 GOA
located in nuclear chromosome IDA
IDA: Inferred from direct assay
18936163 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
24071584 GOA
located in pericentric heterochromatin IDA
IDA: Inferred from direct assay
19486527 GOA
is active in site of DNA damage IDA
IDA: Inferred from direct assay
21211722 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MACROH2A1 Protein Structure

Histone

Histone: Core histone H2A/H2B/H3/H4 (15 - 88)

Macro

Macro: Macro domain (216 - 329)

  • 0
  • 100
  • 200
  • 300
  • 372 a.a.
Protein Preferred Names Protein Names

core histone macro-H2A.1

H2A histone family member Y

MACROH2A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
MACROH2A1 O75367 KRTAP10-8 Homo sapiens P60410
Validated Y2H
32296183
Intra
MACROH2A1 O75367 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra
MACROH2A1 O75367 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra
MACROH2A1 O75367 FAM133A Homo sapiens Q8N9E0
Validated Y2H
32296183
Intra
MACROH2A1 O75367 SREK1IP1 Homo sapiens Q8N9Q2
Validated Y2H
32296183
Intra
MACROH2A1 O75367 VCX2 Homo sapiens Q3SXR9
Validated Y2H
32296183
Intra
MACROH2A1 O75367 H2BC15 Homo sapiens U3KQK0
Y2H Array
32296183
Intra
MACROH2A1 O75367 H2BC15 Homo sapiens U3KQK0
Y2H Prey Pooling
32296183
Intra
MACROH2A1 O75367 H2BC15 Homo sapiens U3KQK0
Validated Y2H
32296183
Intra
MACROH2A1 O75367 TRIM26 Homo sapiens Q12899
Validated Y2H
32296183
Intra
MACROH2A1 O75367 ERICH2 Homo sapiens A1L162
Y2H Array
25416956
Intra
MACROH2A1 O75367 ERICH2 Homo sapiens A1L162
Y2H Array
32296183
Intra
MACROH2A1 O75367 ERICH2 Homo sapiens A1L162
Y2H Prey Pooling
32296183
Intra
MACROH2A1 O75367 ZNF622 Homo sapiens Q969S3
Validated Y2H
32296183
Intra
MACROH2A1 O75367 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra
MACROH2A1 O75367 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra
MACROH2A1 O75367 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
Intra
MACROH2A1 O75367 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra
MACROH2A1 O75367 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra
MACROH2A1 O75367 NKAPD1 Homo sapiens Q6ZUT1
Validated Y2H
32296183
Intra
MACROH2A1 O75367 MAX Homo sapiens P61244
Pull Down
25609649
Cross: Cross-species interaction Intra: Intraspecies interaction

MACROH2A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83441 Macro H2A.1 Antibody (YA3186) WB, ICC/IF Mouse, Rat

Related Diseases

Diseases Alias
Liebenberg Syndrome

Brachydactyly With Joint Dysplasia

Brachydactyly-Elbow Wrist Dysplasia Syndrome

Carpal Synostosis With Dysplastic Elbow Joints And Brachydactyly

LBNBG

Synostosis, Carpal, With Dysplastic Elbow Joints And Brachydactyly

Brachydactyly Elbow Wrist Dysplasia

Brachydactyly-Joint Dysplasia Syndrome
Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site
Anus Benign Neoplasm

Anal Neoplasm

Anal Tumors

Neoplasm Of Anus

Anus Neoplasms
Diffuse Large B-Cell Lymphoma

Dlbcl

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

Large B-Cell Diffuse Lymphoma

Lymphoma, Large B-Cell, Diffuse

Dlbcl - [Diffuse Large B-Cell Lymphoma]

Diffuse Large Beta Cell Lymphoma
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07947 MACROH2A1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris MACROH2A1 VGNC VGNC:81622
Macaca mulatta MACROH2A1 VGNC VGNC:109697
Felis catus MACROH2A1 VGNC VGNC:81624
Mus musculus MACROH2A1 MGD MGI:1349392
Bos taurus MACROH2A1 VGNC VGNC:83608
Rattus norvegicus MACROH2A1 RGD RGD:621462