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    YIPF5 Yip1 domain family member 5 [ Homo sapiens (human) ]

    Gene ID: 81555, updated on 10-Dec-2024

    Summary

    Official Symbol
    YIPF5provided by HGNC
    Official Full Name
    Yip1 domain family member 5provided by HGNC
    Primary source
    HGNC:HGNC:24877
    See related
    Ensembl:ENSG00000145817 MIM:611483; AllianceGenome:HGNC:24877
    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
    MEDS2; SB140; SMAP5; YIP1A; SMAP-5; FinGER5; YIPFalpha1A
    Summary
    Involved in insulin processing and regulation of ER to Golgi vesicle-mediated transport. Located in Golgi apparatus; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 14.2), thyroid (RPKM 12.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See YIPF5 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (144158162..144170659, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (144690356..144702848, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (143537726..143550223, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16486 Neighboring gene histocompatibility minor HB-1 Neighboring gene MPRA-validated peak5509 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:143456065-143456759 Neighboring gene NANOG hESC enhancer GRCh37_chr5:143504731-143505232 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:143543592-143544791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23355 Neighboring gene RNA, 7SL, cytoplasmic 87, pseudogene Neighboring gene potassium channel tetramerization domain containing 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:143677189-143677923 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:143697432-143697944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23357 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:143762205-143763404 Neighboring gene NANOG hESC enhancer GRCh37_chr5:143867216-143867717 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 5 Neighboring gene 60S ribosomal protein L9-like

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Microcephaly, epilepsy, and diabetes syndrome 2
    MedGen: C5543294 OMIM: 619278 GeneReviews: Not available
    not available

    Interactions

    General gene information

    Clone Names

    • DKFZp313L2216

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in COPII-coated ER to Golgi transport vesicle  
    located_in Golgi apparatus  
    located_in endoplasmic reticulum  
    located_in endoplasmic reticulum exit site  
    located_in endoplasmic reticulum membrane  
    located_in intracellular membrane-bounded organelle  
    located_in nucleoplasm  
    is_active_in trans-Golgi network  

    General protein information

    Preferred Names
    protein YIPF5
    Names
    YIP1 family member 5
    YPT-interacting protein 1 A
    five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 5
    golgi membrane protein SB140
    smooth muscle cell associated protein 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001024947.4NP_001020118.1  protein YIPF5 isoform a

      See identical proteins and their annotated locations for NP_001020118.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      AY640926, AY640928, BP310538
      Consensus CDS
      CCDS4279.1
      UniProtKB/Swiss-Prot
      D3DQF5, Q4VSN6, Q53EX4, Q8NHE5, Q969M3, Q9H338, Q9H3U4
      UniProtKB/TrEMBL
      B3KW34
      Related
      ENSP00000397704.2, ENST00000448443.6
      Conserved Domains (1) summary
      cl21557
      Location:89257
      Yip1; Yip1 domain
    2. NM_001271732.2NP_001258661.1  protein YIPF5 isoform b

      See identical proteins and their annotated locations for NP_001258661.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform b which has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AY640926, AY640929, BP310538
      Consensus CDS
      CCDS64277.1
      UniProtKB/TrEMBL
      E5RHH4
      Related
      ENSP00000425422.1, ENST00000513112.5
      Conserved Domains (1) summary
      cl21557
      Location:35203
      Yip1; Yip1 domain
    3. NM_030799.9NP_110426.4  protein YIPF5 isoform a

      See identical proteins and their annotated locations for NP_110426.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      AY640926, BP310538
      Consensus CDS
      CCDS4279.1
      UniProtKB/Swiss-Prot
      D3DQF5, Q4VSN6, Q53EX4, Q8NHE5, Q969M3, Q9H338, Q9H3U4
      UniProtKB/TrEMBL
      B3KW34
      Related
      ENSP00000274496.5, ENST00000274496.10
      Conserved Domains (1) summary
      cl21557
      Location:89257
      Yip1; Yip1 domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      144158162..144170659 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      144690356..144702848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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