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GARIN1B golgi associated RAB2 interactor 1B [ Homo sapiens (human) ]

Gene ID: 84691, updated on 19-Sep-2024

Summary

Official Symbol
GARIN1Bprovided by HGNC
Official Full Name
golgi associated RAB2 interactor 1Bprovided by HGNC
Primary source
HGNC:HGNC:30704
See related
Ensembl:ENSG00000135248 MIM:619905; AllianceGenome:HGNC:30704
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
Also known as
GARIL1; FAM137A; FAM71F1; GARI-L1; NYD-SP18
Expression
Restricted expression toward testis (RPKM 24.4) See more
Orthologs
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Genomic context

See GARIN1B in Genome Data Viewer
Location:
7q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128709061..128731743)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130021222..130043893)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128349115..128371797)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene golgi associated RAB2 interactor 1A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:128341516-128342715 Neighboring gene RNA, 5S ribosomal pseudogene 242 Neighboring gene RNA, 5S ribosomal pseudogene 243 Neighboring gene uncharacterized LOC124901825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26603 Neighboring gene calumenin Neighboring gene RNA, 7SL, cytoplasmic 81, pseudogene Neighboring gene blue cone (S) opsin upstream regulatory region Neighboring gene opsin 1, short wave sensitive

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 acrosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in acrosome reaction ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
Golgi-associated RAB2 interactor protein 1B
Names
Golgi associated RAB2 interactor protein 1B
Golgi-associated RAB2B interactor like 1
family with sequence similarity 137, member A
family with sequence similarity 71 member F1
protein FAM71F1
testes development-related NYD-SP18
testicular tissue protein Li 67
testis development protein NYD-SP18

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_001282788.3NP_001269717.1  Golgi-associated RAB2 interactor protein 1B isoform 2

    See identical proteins and their annotated locations for NP_001269717.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the 3' coding region compared to variant 1. The resulting isoform (2) is 2 aa shorter than isoform 1.
    Source sequence(s)
    AC018638, AC024952
    Consensus CDS
    CCDS94192.1
    UniProtKB/Swiss-Prot
    Q96KD3
    Related
    ENSP00000477573.2, ENST00000621392.5
    Conserved Domains (1) summary
    pfam12480
    Location:140208
    DUF3699; Protein of unknown function (DUF3699)
  2. NM_001282789.2NP_001269718.1  Golgi-associated RAB2 interactor protein 1B isoform 3

    See identical proteins and their annotated locations for NP_001269718.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains 2 alternate exons at the 5' end and uses 2 alternate in-frame acceptor splice sites compared to variant 1. The former difference results in translation initiation from an upstream start codon and a shorter isoform (3) with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK093161, AK302221, BC032842
    Consensus CDS
    CCDS64763.1
    UniProtKB/Swiss-Prot
    Q96KD3
    UniProtKB/TrEMBL
    B4DY15
    Related
    ENSP00000418192.1, ENST00000485070.5
    Conserved Domains (1) summary
    pfam12480
    Location:36109
    DUF3699; Protein of unknown function (DUF3699)
  3. NM_032599.4NP_115988.1  Golgi-associated RAB2 interactor protein 1B isoform 1

    See identical proteins and their annotated locations for NP_115988.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF367470, BC032842, HY051242
    Consensus CDS
    CCDS5804.1
    UniProtKB/Swiss-Prot
    Q8IY75, Q8NA48, Q96KD3
    UniProtKB/TrEMBL
    A0A140VJJ3
    Related
    ENSP00000326652.4, ENST00000315184.9
    Conserved Domains (1) summary
    pfam12480
    Location:138208
    DUF3699; Protein of unknown function (DUF3699)

RNA

  1. NR_104242.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an additional internal exon and uses an alternate acceptor splice site compared to variant 1. This variant is represented as non-coding because use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK310308, BC032842, HY051242
  2. NR_104243.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains several differences, including 2 exons at the 5' end and an internal exon, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK302221, AK310308, BC032842, BC040906
    Related
    ENST00000484425.6

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    128709061..128731743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420990.1XP_047276946.1  Golgi-associated RAB2 interactor protein 1B isoform X4

  2. XM_047420991.1XP_047276947.1  Golgi-associated RAB2 interactor protein 1B isoform X4

  3. XM_047420987.1XP_047276943.1  Golgi-associated RAB2 interactor protein 1B isoform X1

  4. XM_047420988.1XP_047276944.1  Golgi-associated RAB2 interactor protein 1B isoform X2

  5. XM_047420989.1XP_047276945.1  Golgi-associated RAB2 interactor protein 1B isoform X3

    UniProtKB/TrEMBL
    F8WC62
    Related
    ENSP00000418672.1, ENST00000471558.5
  6. XM_047420992.1XP_047276948.1  Golgi-associated RAB2 interactor protein 1B isoform X4

RNA

  1. XR_007060168.1 RNA Sequence

  2. XR_007060169.1 RNA Sequence

  3. XR_007060170.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    130021222..130043893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359268.1XP_054215243.1  Golgi-associated RAB2 interactor protein 1B isoform X4

  2. XM_054359269.1XP_054215244.1  Golgi-associated RAB2 interactor protein 1B isoform X4

  3. XM_054359267.1XP_054215242.1  Golgi-associated RAB2 interactor protein 1B isoform X3

    UniProtKB/TrEMBL
    F8WC62
  4. XM_054359265.1XP_054215240.1  Golgi-associated RAB2 interactor protein 1B isoform X1

  5. XM_054359266.1XP_054215241.1  Golgi-associated RAB2 interactor protein 1B isoform X2

  6. XM_054359270.1XP_054215245.1  Golgi-associated RAB2 interactor protein 1B isoform X4

RNA

  1. XR_008487766.1 RNA Sequence

  2. XR_008487767.1 RNA Sequence

  3. XR_008487768.1 RNA Sequence