Format

Send to:

Choose Destination

SORCS1 sortilin related VPS10 domain containing receptor 1 [ Homo sapiens (human) ]

Gene ID: 114815, updated on 15-Mar-2020

Summary

Official Symbol
SORCS1provided by HGNC
Official Full Name
sortilin related VPS10 domain containing receptor 1provided by HGNC
Primary source
HGNC:HGNC:16697
See related
Ensembl:ENSG00000108018 MIM:606283
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hSorCS
Summary
This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Broad expression in thyroid (RPKM 5.3), brain (RPKM 3.7) and 16 other tissues See more
Orthologs

Genomic context

See SORCS1 in Genome Data Viewer
Location:
10q25.1
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (106573663..107181138, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (108333421..108924466, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378472 Neighboring gene ribosomal protein L23a pseudogene 59 Neighboring gene uncharacterized LOC105378473 Neighboring gene RNA, 5S ribosomal pseudogene 325 Neighboring gene uncharacterized LOC105378475 Neighboring gene uncharacterized LOC105378474 Neighboring gene RNA, 5S ribosomal pseudogene 326

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study link novel loci to endometriosis.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41758, FLJ43475, FLJ44957

Gene Ontology Provided by GOA

Function Evidence Code Pubs
neuropeptide receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
neuropeptide signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
post-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
VPS10 domain-containing receptor SorCS1
Names
VPS10 domain receptor protein SORCS 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029120.1 RefSeqGene

    Range
    5003..596046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001013031.3NP_001013049.1  VPS10 domain-containing receptor SorCS1 isoform b precursor

    See identical proteins and their annotated locations for NP_001013049.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (b).
    Source sequence(s)
    AB209142, AK123752, AK125464, AL133395, AW137766
    UniProtKB/Swiss-Prot
    Q8WY21
    UniProtKB/TrEMBL
    B3KVZ0, B3KWN9
    Conserved Domains (3) summary
    smart00602
    Location:196793
    VPS10; VPS10 domain
    pfam00801
    Location:807880
    PKD; PKD domain
    pfam15901
    Location:638793
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  2. NM_001206569.2NP_001193498.1  VPS10 domain-containing receptor SorCS1 isoform c precursor

    See identical proteins and their annotated locations for NP_001193498.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform b.
    Source sequence(s)
    AB209142, AK074581, AK125464, AL133395, AY099452
    UniProtKB/Swiss-Prot
    Q8WY21
    UniProtKB/TrEMBL
    B3KWN9
    Conserved Domains (3) summary
    smart00602
    Location:196793
    VPS10; VPS10 domain
    pfam00801
    Location:807880
    PKD; PKD domain
    pfam15901
    Location:638793
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  3. NM_001206570.2NP_001193499.1  VPS10 domain-containing receptor SorCS1 isoform d precursor

    See identical proteins and their annotated locations for NP_001193499.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon compared to variant 2, that causes a frameshift. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform b.
    Source sequence(s)
    AB209142, AK125464, AK289797, AL133395, AW137766
    UniProtKB/Swiss-Prot
    Q8WY21
    UniProtKB/TrEMBL
    A8K182, B3KWN9
    Conserved Domains (3) summary
    smart00602
    Location:196793
    VPS10; VPS10 domain
    pfam00801
    Location:807880
    PKD; PKD domain
    pfam15901
    Location:638793
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  4. NM_001206571.2NP_001193500.1  VPS10 domain-containing receptor SorCS1 isoform e precursor

    See identical proteins and their annotated locations for NP_001193500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (e) has a shorter and distinct C-terminus compared to isoform b.
    Source sequence(s)
    AB209142, AK074581, AK125464, AY099453
    UniProtKB/Swiss-Prot
    Q8WY21
    UniProtKB/TrEMBL
    B3KWN9
    Conserved Domains (3) summary
    smart00602
    Location:196793
    VPS10; VPS10 domain
    pfam00801
    Location:807880
    PKD; PKD domain
    pfam15901
    Location:638793
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  5. NM_001206572.2NP_001193501.1  VPS10 domain-containing receptor SorCS1 isoform f precursor

    See identical proteins and their annotated locations for NP_001193501.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (f) has a shorter and distinct C-terminus compared to isoform b.
    Source sequence(s)
    AB209142, AK125464, AL133395, AW137766, EU281344
    UniProtKB/Swiss-Prot
    Q8WY21
    UniProtKB/TrEMBL
    B3KWN9, E6Y3G0
    Conserved Domains (3) summary
    smart00602
    Location:196793
    VPS10; VPS10 domain
    pfam00801
    Location:807880
    PKD; PKD domain
    pfam15901
    Location:638793
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  6. NM_052918.5NP_443150.3  VPS10 domain-containing receptor SorCS1 isoform a precursor

    See identical proteins and their annotated locations for NP_443150.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (a) has a shorter and distinct C-terminus compared to isoform b.
    Source sequence(s)
    AB209142, AF284756, AK125464, AL133395, AW137766
    Consensus CDS
    CCDS7559.1
    UniProtKB/Swiss-Prot
    Q8WY21
    UniProtKB/TrEMBL
    B3KWN9
    Related
    ENSP00000263054.5, ENST00000263054.10
    Conserved Domains (3) summary
    smart00602
    Location:196793
    VPS10; VPS10 domain
    pfam00801
    Location:807880
    PKD; PKD domain
    pfam15901
    Location:638793
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    106573663..107181138 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015617.1XP_016871106.1  VPS10 domain-containing receptor SorCS1 isoform X6

    Related
    ENSP00000345964.7, ENST00000344440.7
  2. XM_017015615.2XP_016871104.1  VPS10 domain-containing receptor SorCS1 isoform X3

  3. XM_017015614.2XP_016871103.1  VPS10 domain-containing receptor SorCS1 isoform X1

  4. XM_017015616.1XP_016871105.1  VPS10 domain-containing receptor SorCS1 isoform X5

  5. XM_017015618.1XP_016871107.1  VPS10 domain-containing receptor SorCS1 isoform X7

    Related
    ENSP00000358712.1, ENST00000369698.5
  6. XM_011539199.3XP_011537501.1  VPS10 domain-containing receptor SorCS1 isoform X2

    See identical proteins and their annotated locations for XP_011537501.1

    UniProtKB/TrEMBL
    E6Y3F9
    Conserved Domains (3) summary
    smart00602
    Location:196793
    VPS10; VPS10 domain
    pfam00801
    Location:807880
    PKD; PKD domain
    pfam15901
    Location:638793
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  7. XM_011539201.3XP_011537503.1  VPS10 domain-containing receptor SorCS1 isoform X4

    Conserved Domains (3) summary
    smart00602
    Location:196793
    VPS10; VPS10 domain
    pfam00801
    Location:807880
    PKD; PKD domain
    pfam15901
    Location:638793
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
Support Center