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

Gene ID: 157769, updated on 4-Dec-2022

Summary

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, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 18.2), thyroid (RPKM 13.0) and 25 other tissues See more
Orthologs
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Genomic context

See FAM91A1 in Genome Data Viewer
Location:
8q24.13
Exon count:
26
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123768439..123815452)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124900680..124947695)
105.20220307 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 uncharacterized LOC124902014 Neighboring gene fer-1 like family member 6 Neighboring gene Sharpr-MPRA regulatory region 15371

Genomic regions, transcripts, and products

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001317917.2NP_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:170
    FAM91_N; FAM91 N-terminus
    pfam14648
    Location:132579
    FAM91_C; FAM91 C-terminus
  2. NM_001317918.1NP_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/Swiss-Prot
    Q658Y4
    UniProtKB/TrEMBL
    B4DUD8, E7ER68
    Related
    ENSP00000429491.1, ENST00000521166.5
    Conserved Domains (2) summary
    pfam14647
    Location:10312
    FAM91_N; FAM91 N-terminus
    pfam14648
    Location:374777
    FAM91_C; FAM91 C-terminus
  3. NM_144963.4NP_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
    Q8TE89
    Related
    ENSP00000335082.7, ENST00000334705.12
    Conserved Domains (2) summary
    pfam14647
    Location:10312
    FAM91_N; FAM91 N-terminus
    pfam14648
    Location:374821
    FAM91_C; FAM91 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047421405.1XP_047277361.1  protein FAM91A1 isoform X1

  2. XM_047421406.1XP_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)