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FAM91A1 family with sequence similarity 91 member A1 [ Homo sapiens (human) ]

Gene ID: 157769, updated on 2-Nov-2024

Summary

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Official Symbol
FAM91A1provided by HGNC
Official Full Name
family with sequence similarity 91 member A1provided by HGNC
Primary source
HGNC:HGNC:26306
See related
Ensembl:ENSG00000176853 AllianceGenome:HGNC:26306
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Involved in intracellular protein transport and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 18.2), thyroid (RPKM 13.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See FAM91A1 in Genome Data Viewer
Location:
8q24.13
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123768439..123815452)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124900680..124947695)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124780679..124827692)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375738 Neighboring gene annexin A13 Neighboring gene uncharacterized LOC105375739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19506 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:124863791-124863939 Neighboring gene uncharacterized LOC124902014 Neighboring gene fer-1 like family member 6 Neighboring gene Sharpr-MPRA regulatory region 15371 Neighboring gene FER1L6 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12119

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Dysbindin-associated proteome in the p2 synaptosome fraction of mouse brain. Han MH, et al. J Proteome Res, 2014 Nov 7. PMID 25198678, Free PMC Article
  2. FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH. Zhao L, et al. Proc Natl Acad Sci U S A, 2023 Nov 7. PMID 37903274, Free PMC Article
  3. The WDR11 complex facilitates the tethering of AP-1-derived vesicles. Navarro Negredo P, et al. Nat Commun, 2018 Feb 9. PMID 29426865, Free PMC Article
  4. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. Shin JJH, et al. Nat Cell Biol, 2017 Dec. PMID 29084197, Free PMC Article
  5. Genome-wide association study of pancreatic cancer in Japanese population. Low SK, et al. PLoS One, 2010 Jul 29. PMID 20686608, Free PMC Article

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.
    Title: FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
EBI GWAS Catalog
Genome-wide association study of pancreatic cancer in Japanese population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23790, DKFZp666B104

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular protein transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle tethering to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle tethering to Golgi IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein FAM91A1
Names
skeletal muscle cells re-entry induced

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001317917.2 → NP_001304846.2  protein FAM91A1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC011134
    Conserved Domains (2) summary
    pfam14647
    Location:1 → 70
    FAM91_N; FAM91 N-terminus
    pfam14648
    Location:132 → 579
    FAM91_C; FAM91 C-terminus

  2. NM_001317918.1 → NP_001304847.1  protein FAM91A1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes a 3' terminal exon that extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011134, AK300603, BM151216, CN263780, DC308945, DQ228141
    Consensus CDS
    CCDS83322.1
    UniProtKB/TrEMBL
    B4DUD8, E7ER68
    Related
    ENSP00000429491.1, ENST00000521166.5
    Conserved Domains (2) summary
    pfam14647
    Location:10 → 312
    FAM91_N; FAM91 N-terminus
    pfam14648
    Location:374 → 777
    FAM91_C; FAM91 C-terminus

  3. NM_144963.4 → NP_659400.3  protein FAM91A1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC011134
    Consensus CDS
    CCDS6346.2
    UniProtKB/Swiss-Prot
    B6YY23, Q658T5, Q658Y4, Q8TE89
    UniProtKB/TrEMBL
    B4DUD8
    Related
    ENSP00000335082.7, ENST00000334705.12
    Conserved Domains (2) summary
    pfam14647
    Location:10 → 312
    FAM91_N; FAM91 N-terminus
    pfam14648
    Location:374 → 821
    FAM91_C; FAM91 C-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    123768439..123815452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421405.1 → XP_047277361.1  protein FAM91A1 isoform X1

  2. XM_047421406.1 → XP_047277362.1  protein FAM91A1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    124900680..124947695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359846.1 → XP_054215821.1  protein FAM91A1 isoform X1

  2. XM_054359847.1 → XP_054215822.1  protein FAM91A1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q658Y4.3 GenPept UniProtKB/Swiss-Prot:Q658Y4

Gene LinkOut

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Chemical Information
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