1. Gene
  2. SCFD1 - sec1 family domain containing 1 Gene

SCFD1 - sec1 family domain containing 1 Gene

Homo sapiens

Also known as SLY1; RA410; SLY1P; STXBP1L2; C14orf163

Gene ID: 23256 | Gene type: protein coding

About SCFD1

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:30,622,254-30,735,850 (from NCBI)

This gene has 72 transcripts (splice variants), 213 orthologues and 7 paralogues. Ubiquitous expression in thyroid (RPKM 19.4), testis (RPKM 13.5) and 25 other tissues.

Summary

Predicted to enable syntaxin binding activity. Involved in negative regulation of autophagosome assembly; regulation of protein transport; and response to toxic substance. Located in cis-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]

SCFD1 Products(6)

mRNA Protein Name
NM_001257376.1 NP_001244305.1 sec1 family domain-containing protein 1 isoform c
NM_001283031.1 NP_001269960.1 sec1 family domain-containing protein 1 isoform d
NM_001283032.1 NP_001269961.1 sec1 family domain-containing protein 1 isoform e
NM_001283033.1 NP_001269962.1 sec1 family domain-containing protein 1 isoform d
NM_016106.4 NP_057190.2 sec1 family domain-containing protein 1 isoform a
NM_182835.2 NP_878255.1 sec1 family domain-containing protein 1 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19536132 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of autophagosome assembly IMP
IMP: Inferred from mutant phenotype
21242315 GOA
involved in regulation of protein transport IMP
IMP: Inferred from mutant phenotype
21242315 GOA
involved in response to toxic substance IEP
IEP: Inferred from expression pattern
15649705 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cis-Golgi network IDA
IDA: Inferred from direct assay
15649705 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

SCFD1 Protein Structure

Sec1

Sec1: Sec1 family (43 - 636)

  • 0
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  • 400
  • 500
  • 600
  • 642 a.a.
Protein Preferred Names Protein Names

sec1 family domain-containing protein 1

syntaxin-binding protein 1-like 2

SCFD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SCFD1 Q8WVM8 COG4 Homo sapiens Q9H9E3 19536132
Intra
SCFD1 Q8WVM8 COG4 Homo sapiens Q9H9E3 19536132
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Familial Adenomatous Polyposis 3

FAP3

Nthl1-Related Attenuated Familial Adenomatous Polyposis

Nthl1-Related Afap

Nthl1-Related Attenuated Fap

Achondrogenesis, Type Ia

Achondrogenesis Type Ia

Achondrogenesis Type 1a

ACG1A

Achondrogenesis, Houston-Harris Type

Achondrogenesis Houston-Harris Type

Achondrogenesis 1a

Acg-Ia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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
Felis catus SCFD1 VGNC VGNC:64907
Rattus norvegicus SCFD1 RGD RGD:619828
Bos taurus SCFD1 VGNC VGNC:34330
Mus musculus SCFD1 MGD MGI:1924233
Macaca mulatta SCFD1 VGNC VGNC:77065
Canis familiaris SCFD1 VGNC VGNC:45903