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FHIP1B FHF complex subunit HOOK interacting protein 1B [ Homo sapiens (human) ]

Gene ID: 84067, updated on 11-Apr-2024

Summary

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Official Symbol
FHIP1Bprovided by HGNC
Official Full Name
FHF complex subunit HOOK interacting protein 1Bprovided by HGNC
Primary source
HGNC:HGNC:25378
See related
Ensembl:ENSG00000051009 MIM:620229; AllianceGenome:HGNC:25378
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
FHIP; C11orf56; FAM160A2
Summary
The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in small intestine (RPKM 16.8), duodenum (RPKM 16.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11p15.4
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6211345..6234636, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6269793..6293085, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6232575..6255866, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:6220268-6220768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:6220769-6221269 Neighboring gene MPRA-validated peak1185 silencer Neighboring gene olfactory receptor family 52 subfamily W member 1 Neighboring gene chromosome 11 open reading frame 42 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3098 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6256113-6256803 Neighboring gene cyclic nucleotide gated channel subunit alpha 4 Neighboring gene MPRA-validated peak1186 silencer Neighboring gene cholecystokinin B receptor Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:6291386-6292585

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
  • 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. The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A. Mattera R, et al. Mol Biol Cell, 2020 Apr 15. PMID 32073997, Free PMC Article
  2. An FTS/Hook/p107(FHIP) complex interacts with and promotes endosomal clustering by the homotypic vacuolar protein sorting complex. Xu L, et al. Mol Biol Cell, 2008 Dec. PMID 18799622, Free PMC Article
  3. Cytoplasmic dynein-1 cargo diversity is mediated by the combinatorial assembly of FTS-Hook-FHIP complexes. Christensen JR, et al. Elife, 2021 Dec 9. PMID 34882091, Free PMC Article
  4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
  5. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22665, KIAA1759, DKFZp566M1046

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 early endosome to late endosome transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in early endosome to late endosome transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endosome to lysosome transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lysosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lysosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of FHF complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of FHF complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
FHF complex subunit HOOK-interacting protein 1B
Names
FTS and Hook-interacting protein
family with sequence similarity 160 member A2

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.

Genomic

  1. NG_052832.1 RefSeqGene

    Range
    5076..28367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098794.2 → NP_001092264.1  FHF complex subunit HOOK-interacting protein 1B isoform 2

    See identical proteins and their annotated locations for NP_001092264.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AB051546, BC030825, DA389621
    Consensus CDS
    CCDS44530.1
    UniProtKB/Swiss-Prot
    Q8N612, Q9C0A4, Q9H0N3, Q9H624
    Related
    ENSP00000416918.3, ENST00000449352.7
    Conserved Domains (2) summary
    PHA03321
    Location:459 → 590
    PHA03321; tegument protein VP11/12; Provisional
    pfam10257
    Location:97 → 426
    RAI16-like; Retinoic acid induced 16-like protein

  2. NM_032127.4 → NP_115503.2  FHF complex subunit HOOK-interacting protein 1B isoform 1

    See identical proteins and their annotated locations for NP_115503.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB051546, AL136723, DA389621
    Consensus CDS
    CCDS7760.1
    UniProtKB/Swiss-Prot
    Q8N612
    Related
    ENSP00000265978.4, ENST00000265978.8
    Conserved Domains (2) summary
    pfam04814
    Location:454 → 581
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    pfam10257
    Location:97 → 426
    RAI16-like; Retinoic acid induced 16-like protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    6211345..6234636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427687.1 → XP_047283643.1  FHF complex subunit HOOK-interacting protein 1B isoform X2

    UniProtKB/Swiss-Prot
    Q8N612, Q9C0A4, Q9H0N3, Q9H624

  2. XM_006718343.4 → XP_006718406.1  FHF complex subunit HOOK-interacting protein 1B isoform X1

    See identical proteins and their annotated locations for XP_006718406.1

    UniProtKB/Swiss-Prot
    Q8N612
    Conserved Domains (2) summary
    pfam04814
    Location:454 → 581
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    pfam10257
    Location:97 → 426
    RAI16-like; Retinoic acid induced 16-like protein

  3. XM_024448710.2 → XP_024304478.1  FHF complex subunit HOOK-interacting protein 1B isoform X4

    UniProtKB/TrEMBL
    E9PJK5
    Conserved Domains (2) summary
    PHA03321
    Location:459 → 590
    PHA03321; tegument protein VP11/12; Provisional
    pfam10257
    Location:97 → 426
    RAI16-like; Retinoic acid induced 16-like protein

  4. XM_011520398.4 → XP_011518700.1  FHF complex subunit HOOK-interacting protein 1B isoform X3

    UniProtKB/TrEMBL
    E9PJK5
    Conserved Domains (2) summary
    pfam04814
    Location:454 → 581
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    pfam10257
    Location:97 → 426
    RAI16-like; Retinoic acid induced 16-like protein

  5. XM_047427688.1 → XP_047283644.1  FHF complex subunit HOOK-interacting protein 1B isoform X2

    UniProtKB/Swiss-Prot
    Q8N612, Q9C0A4, Q9H0N3, Q9H624

  6. XM_047427685.1 → XP_047283641.1  FHF complex subunit HOOK-interacting protein 1B isoform X1

  7. XM_047427686.1 → XP_047283642.1  FHF complex subunit HOOK-interacting protein 1B isoform X2

    UniProtKB/Swiss-Prot
    Q8N612, Q9C0A4, Q9H0N3, Q9H624

  8. XM_011520397.3 → XP_011518699.1  FHF complex subunit HOOK-interacting protein 1B isoform X1

    See identical proteins and their annotated locations for XP_011518699.1

    UniProtKB/Swiss-Prot
    Q8N612
    Conserved Domains (2) summary
    pfam04814
    Location:454 → 581
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    pfam10257
    Location:97 → 426
    RAI16-like; Retinoic acid induced 16-like protein

  9. XM_047427689.1 → XP_047283645.1  FHF complex subunit HOOK-interacting protein 1B isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    6269793..6293085 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370152.1 → XP_054226127.1  FHF complex subunit HOOK-interacting protein 1B isoform X2

  2. XM_054370148.1 → XP_054226123.1  FHF complex subunit HOOK-interacting protein 1B isoform X1

  3. XM_054370155.1 → XP_054226130.1  FHF complex subunit HOOK-interacting protein 1B isoform X4

  4. XM_054370154.1 → XP_054226129.1  FHF complex subunit HOOK-interacting protein 1B isoform X3

  5. XM_054370151.1 → XP_054226126.1  FHF complex subunit HOOK-interacting protein 1B isoform X2

  6. XM_054370149.1 → XP_054226124.1  FHF complex subunit HOOK-interacting protein 1B isoform X1

  7. XM_054370153.1 → XP_054226128.1  FHF complex subunit HOOK-interacting protein 1B isoform X2

  8. XM_054370150.1 → XP_054226125.1  FHF complex subunit HOOK-interacting protein 1B isoform X1

  9. XM_054370156.1 → XP_054226131.1  FHF complex subunit HOOK-interacting protein 1B isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N612.3 GenPept UniProtKB/Swiss-Prot:Q8N612

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