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

    Gene ID: 84067, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See FHIP1B in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6211345..6234636, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6269793..6293085, complement)
    RS_2024_09 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 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 (31) 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_2024_08

    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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