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MUC5AC mucin 5AC, oligomeric mucus/gel-forming [ Homo sapiens (human) ]

Gene ID: 4586, updated on 3-Dec-2023

Summary

Official Symbol
MUC5ACprovided by HGNC
Official Full Name
mucin 5AC, oligomeric mucus/gel-formingprovided by HGNC
Primary source
HGNC:HGNC:7515
See related
Ensembl:ENSG00000215182 MIM:158373; AllianceGenome:HGNC:7515
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
TBM; leB; MUC5; mucin
Summary
Predicted to be an extracellular matrix structural constituent. Involved in phosphatidylinositol-mediated signaling. Located in cytoplasm; extracellular space; and mucus layer. Implicated in dry eye syndrome. Biomarker of several diseases, including Sjogren's syndrome; biliary tract disease (multiple); cystic fibrosis; eye disease (multiple); and pancreatic cancer (multiple). [provided by Alliance of Genome Resources, Apr 2022]
Annotation information
Annotation category: suggests misassembly
Expression
Restricted expression toward stomach (RPKM 226.0) See more
Orthologs
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Genomic context

See MUC5AC in Genome Data Viewer
Location:
11p15.5
Exon count:
49
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1157953..1201138)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1229366..1272380)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1151580..1222364)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:1060443-1061642 Neighboring gene uncharacterized LOC107987157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1077965-1078465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1078491-1079026 Neighboring gene mucin 2, oligomeric mucus/gel-forming Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1107354-1107884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1107885-1108414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1134566-1135066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1145665-1146418 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:1214179-1215378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1223657-1224164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1224165-1224671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1244137-1244834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1244835-1245530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1245531-1246228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1259661-1260162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1260163-1260662 Neighboring gene mucin 5B, oligomeric mucus/gel-forming Neighboring gene MUC5B antisense RNA 1 Neighboring gene microRNA 6744

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

EBI GWAS Catalog

Description
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
mucin-5AC
Names
gastric mucin
lewis B blood group antigen
major airway glycoprotein
mucin 5, subtypes A and C, tracheobronchial/gastric
mucin 5AC, oligomeric mucus/gel-forming pseudogene
mucin-5 subtype AC, tracheobronchial
tracheobronchial mucin

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_001304359.2NP_001291288.1  mucin-5AC precursor

    See identical proteins and their annotated locations for NP_001291288.1

    Status: VALIDATED

    Source sequence(s)
    AF015521, AJ001402, AJ298317, BC033831, FP326773, KC800812, Z48314
    Consensus CDS
    CCDS76369.1
    UniProtKB/Swiss-Prot
    A0A096LPK4, O60460, O76065, P98088, Q13792, Q14425, Q658Q1, Q7M4S5, Q8N4M9, Q8WWQ3, Q8WWQ4, Q8WWQ5
    UniProtKB/TrEMBL
    T1S9D5
    Related
    ENSP00000485659.1, ENST00000621226.2
    Conserved Domains (7) summary
    smart00041
    Location:55345616
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:49115079
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:624694
    C8; This domain contains 8 conserved cysteine residues
    PHA03247
    Location:13351576
    PHA03247; large tegument protein UL36; Provisional
    cd19941
    Location:338394
    TIL; trypsin inhibitor-like cysteine rich domain
    pfam08742
    Location:265334
    C8; C8 domain
    pfam13330
    Location:13891475
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region

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
    1157953..1201138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015148966.2 Reference GRCh38.p14 PATCHES

    Range
    155427..198622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    1229366..1272380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017511.1: Suppressed sequence

    Description
    NM_017511.1: This RefSeq was permanently suppressed because it was based on a chimeric sequence.