1. Gene
  2. SAT1 - spermidine/spermine N1-acetyltransferase 1 Gene

SAT1 - spermidine/spermine N1-acetyltransferase 1 Gene

Homo sapiens

Also known as SAT; DC21; KFSD; SSAT; KFSDX; SSAT-1

Gene ID: 6303 | Gene type: protein coding

About SAT1

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:23,783,173-23,786,210 (from NCBI)

This gene has 8 transcripts (splice variants), 293 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 336.5), thyroid (RPKM 226.9) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting Enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]

SAT1 Products(1)

mRNA Protein Name
NM_002970.4 NP_002961.1 diamine acetyltransferase 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables N-acetyltransferase activity IDA
IDA: Inferred from direct assay
15283699 GOA
enables diamine N-acetyltransferase activity IDA
IDA: Inferred from direct assay
15283699 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16169070 GOA
Biological Process GO Annotation Evidence Reference Source
involved in angiogenesis IEP
IEP: Inferred from expression pattern
11866539 GOA
involved in polyamine biosynthetic process IDA
IDA: Inferred from direct assay
15283699 GOA
involved in spermidine acetylation IDA
IDA: Inferred from direct assay
15283699 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

SAT1 Protein Structure

Acetyltransf_1

Acetyltransf_1: Acetyltransferase (GNAT) family (67 - 145)

  • 0
  • 100
  • 171 a.a.
Protein Preferred Names Protein Names

diamine acetyltransferase 1

diamine N-acetyltransferase 1

Related Diseases

Diseases Alias
Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Keratosis

Actinic Keratosis

Hyperkeratosis

Tungiasis

Tunga Penetrans Infestation

Chigger Flea

S Penetrans

Sarcopsylla Penetrans

T Penetrans

Tunga Penetrans

Sand-Flea Infestation

Jiggers Infestation

Chigoe Infestation

Jigger Disease

Syndromic X-Linked Intellectual Disability Snyder Type

Snyder-Robinson Syndrome

Mental Retardation, X-Linked, Snyder-Robinson Type

Spermine Synthase Deficiency

Srs

Snyder-Robinson Mental Retardation Syndrome

X-Linked Intellectual Disability Snyder-Robinson Type

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Snyder-Robinson X-Linked Mental Retardation Syndrome

Keratosis Pilaris Atrophicans

KPA

Burnett Schwartz Berberian Syndrome

Acute Pancreatitis

Pancreatitis

Pancreatitis, Acute Necrotizing

Pancreatitis Nos

Acute Pancreas Inflammation

Olmsted Syndrome, X-Linked

OLMSX

Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked

Ppkmx

X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

X-Linked Olmsted Syndrome

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques, X-Linked

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SAT1 RGD RGD:1586174
Mus musculus SAT1 MGD MGI:98233
Macaca mulatta SAT1 VGNC VGNC:76973
Bos taurus SAT1 VGNC VGNC:34296
Canis familiaris SAT1 VGNC VGNC:82297
Others SAT1 NCBI