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GPANK1 G-patch domain and ankyrin repeats 1 [ Homo sapiens (human) ]

Gene ID: 7918, updated on 22-Aug-2020

Summary

Official Symbol
GPANK1provided by HGNC
Official Full Name
G-patch domain and ankyrin repeats 1provided by HGNC
Primary source
HGNC:HGNC:13920
See related
Ensembl:ENSG00000204438 MIM:142610
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
G5; BAT4; D6S54E; ANKRD59; GPATCH10
Summary
This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]
Expression
Ubiquitous expression in testis (RPKM 11.3), ovary (RPKM 5.1) and 25 other tissues See more
Orthologs

Genomic context

See GPANK1 in Genome Data Viewer
Location:
6p21.33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31661228..31666283, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31629006..31634060, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BAG cochaperone 6 Neighboring gene apolipoprotein M Neighboring gene chromosome 6 open reading frame 47 Neighboring gene casein kinase 2 beta Neighboring gene lymphocyte antigen 6 family member G5B Neighboring gene lymphocyte antigen 6 family member G5C

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

Associated conditions

Description Tests
Common variants associated with general and MMR vaccine-related febrile seizures.
GeneReviews: Not available
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
G patch domain and ankyrin repeat-containing protein 1
Names
G patch domain and ankyrin repeats-containing protein 1
G patch domain containing 10
HLA-B-associated transcript 4
ankyrin repeat domain-containing protein 59
g patch domain-containing protein 10
protein BAT4
protein G5

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.

mRNA and Protein(s)

  1. NM_001199237.1NP_001186166.1  G patch domain and ankyrin repeat-containing protein 1

    See identical proteins and their annotated locations for NP_001186166.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AK123707, AL662899
    Consensus CDS
    CCDS4711.1
    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2
    Related
    ENSP00000365071.1, ENST00000375906.5
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001199238.1NP_001186167.1  G patch domain and ankyrin repeat-containing protein 1

    See identical proteins and their annotated locations for NP_001186167.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
    Source sequence(s)
    AK123707, AK314056, AL662899, BC018875
    Consensus CDS
    CCDS4711.1
    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2, B2RA66
    Related
    ENSP00000365065.4, ENST00000375900.8
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_001199239.1NP_001186168.1  G patch domain and ankyrin repeat-containing protein 1

    See identical proteins and their annotated locations for NP_001186168.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
    Source sequence(s)
    AK123707, AK314056, AL662899, BC018875
    Consensus CDS
    CCDS4711.1
    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2, B2RA66
    Related
    ENSP00000365059.2, ENST00000375895.6
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  4. NM_001199240.1NP_001186169.1  G patch domain and ankyrin repeat-containing protein 1

    See identical proteins and their annotated locations for NP_001186169.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
    Source sequence(s)
    AJ420471, AK123707, AK314056, AL662899
    Consensus CDS
    CCDS4711.1
    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2, B2RA66
    Related
    ENSP00000365057.2, ENST00000375893.6
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  5. NM_033177.4NP_149417.1  G patch domain and ankyrin repeat-containing protein 1

    See identical proteins and their annotated locations for NP_149417.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
    Source sequence(s)
    AK123707, AL662899, BC018875
    Consensus CDS
    CCDS4711.1
    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2
    Related
    ENSP00000365060.4, ENST00000375896.9
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31661228..31666283 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249403.3XP_005249460.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005249460.1

    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  2. XM_024446549.1XP_024302317.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  3. XM_024446548.1XP_024302316.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  4. XM_011514910.1XP_011513212.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011513212.1

    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  5. XM_011514909.1XP_011513211.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011513211.1

    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)
  6. XM_006715204.1XP_006715267.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715267.1

    UniProtKB/Swiss-Prot
    O95872
    UniProtKB/TrEMBL
    A0A024RCU2
    Conserved Domains (3) summary
    sd00045
    Location:142174
    ANK; ANK repeat [structural motif]
    pfam01585
    Location:256299
    G-patch; G-patch domain
    pfam12796
    Location:108195
    Ank_2; Ankyrin repeats (3 copies)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3138518..3143574 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    2908999..2914055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    2966275..2971330 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3003100..3008155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    2917046..2922107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    2960505..2965567 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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