MUC1 mucin 1, cell surface associated [Homo sapiens (human)] - Gene

Summary

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Official Symbol: MUC1provided by HGNC
Official Full Name: mucin 1, cell surface associatedprovided by HGNC
Primary source: HGNC:7508
Locus tag: RP11-263K19.2
See related: Ensembl:ENSG00000185499; HPRD:01152; MIM:158340; Vega:OTTHUMG00000035681
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: EMA; PEM; PUM; KL-6; MAM6; PEMT; CD227; H23AG; MUC-1; CA 15-3; MUC-1/X; MUC1/ZD; MUC-1/SEC
Summary: This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

Genomic context

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Location :: 1q21

Sequence :: Chromosome: 1; NC_000001.10 (155158300..155162706, complement)

See MUC1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Administration of anti-hMUC1 IgE reduced the growth of MUC1(+) tumors.
Title: Using the allergic immune system to target cancer: activity of IgE antibodies specific for human CD20 and MUC1.
The expression of MUC4 as well as MUC1 in early gastric cancers is a useful marker to predict poor prognostic factors related with vessel invasion.
Title: MUC4 and MUC1 expression in adenocarcinoma of the stomach correlates with vessel invasion and lymph node metastasis: an immunohistochemical study of early gastric cancer.
Studies indicate the diverse roles of mucin-type O-glycosylation during eukaryotic development.
Title: Mucin-type O-glycosylation during development.
We now report that one new G SNP-associated isoform MUC1/Y-LSP, but not the A SNP-associated isoform MUC1/Y, inhibits tumor growth in immunocompetent but not immunocompromised mice.
Title: Human mucin MUC1 RNA undergoes different types of alternative splicing resulting in multiple isoforms.
Compared serum sFas and p53 protein with that of serum CA 15-3 as the most commonly used breast cancer tumor marker. Serum samples were from breast cancer patients before surgery, 2 weeks after surgery and after six cycles of FAC chemotherapy.
Title: The clinical significance of serum soluble Fas and p53 protein in breast cancer patients: comparison with serum CA 15-3.
ALKBH2 is an upstream molecule of the oncoprotein, MUC1, and regulates cell cycle and EMT, resulting in progression of urothelial carcinomas.
Title: ALKBH2, a novel AlkB homologue, contributes to human bladder cancer progression by regulating MUC1 expression.
CA 15-3 has been identified as a valuable marker for pretherapeutic stratification of breast cancer patients with liver metastasis and early estimation of response to selective internal radiation therapy
Title: CA 15-3 is a predictive and prognostic biomarker in patients with metastasized breast cancer undergoing Selective Internal Radiation Therapy.
In colon cancer, the expression of mucin1 can be promoted by rIL-6, while the expression of mucin2 can be inhibited.
Title: [Expression of mucin regulated by recombinant human interleukin-6 in HT-29 cell of colon cancer].
MUC1 and MSLN were superior to pathologic features and other putative biomarkers as predicting survival group.
Title: A novel survival-based tissue microarray of pancreatic cancer validates MUC1 and mesothelin as biomarkers.
MUC1-C and Rab31 function in an autoinductive loop that contributes to overexpression of MUC1-C in breast cancer cells.
Title: Cooperative interaction between the MUC1-C oncoprotein and the Rab31 GTPase in estrogen receptor-positive breast cancer cells.

Submit: New GeneRIF Correction See all (381)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.

Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_002447.3	U17193.1	BAX	BIND	PubMed	MUC1 C-ter interacts with the Bax promoter.
NP_002447.3	U24170.1	CDKN1A	BIND	PubMed	MUC1 C-ter interacts with the p21 promoter.
NP_002447.3	NP_000537.2	TP53	BIND	PubMed	MUC1 C-ter interacts with p53.
NP_877418.1	NP_001895.1	CTNNB1	BIND	PubMed	MUC1 interacts with beta-catenin.
NP_877418.1	NP_005219.2	EGFR	BIND	PubMed	MUC1 interacts with and is tyrosine-phosphorylated by EGFR.
NP_877418.1	NP_005408.1	SRC	BIND	PubMed	MUC1 interacts with c-Src.
P15941	P00519	ABL1	HPRD	PubMed
P15941	P25054	APC	HPRD	PubMed
P15941	NP_001895.1	CTNNB1	HPRD	PubMed
P15941	P35222	CTNNB1	HPRD	PubMed
P15941	NP_001322.1	CTNND1	HPRD	PubMed
P15941	O60716	CTNND1	HPRD	PubMed
P15941	NP_005219.1	EGFR	HPRD	PubMed
P15941	P00533	EGFR	HPRD	PubMed
P15941	NP_004439.1	ERBB2	HPRD	PubMed
P15941	P04626	ERBB2	HPRD	PubMed
P15941	NP_001973.1	ERBB3	HPRD	PubMed
P15941	P21860	ERBB3	HPRD	PubMed
P15941	NP_005226.1	ERBB4	HPRD	PubMed
P15941	Q15303	ERBB4	HPRD	PubMed
P15941	GalNAc Transferase 1	GALNT1	HPRD	PubMed
P15941	Q10472	GALNT1	HPRD	PubMed
P15941	NP_938080.1	GALNT10	HPRD	PubMed
P15941	Q86SR1	GALNT10	HPRD	PubMed
P15941	Q8IXK2	GALNT12	HPRD	PubMed
P15941	NP_473451.2	GALNT15	HPRD	PubMed
P15941	Q8N3T1	GALNT15	HPRD	PubMed
P15941	NP_004472.1	GALNT2	HPRD	PubMed
P15941	Q10471	GALNT2	HPRD	PubMed
P15941	NP_002077.1	GRB2	HPRD	PubMed
P15941	P62993	GRB2	HPRD	PubMed
P15941	NP_002084.2	GSK3B	HPRD	PubMed
P15941	P49841	GSK3B	HPRD	PubMed
P15941	NP_002221.1	JUP	HPRD	PubMed
P15941	P14923	JUP	HPRD	PubMed
P15941	P06239	LCK	HPRD	PubMed
P15941	P07948	LYN	HPRD	PubMed
P15941	NP_060277.1	OSGEP	HPRD	PubMed
P15941	Q9NPF4	OSGEP	HPRD	PubMed
P15941	NP_006245.1	PRKCD	HPRD	PubMed
P15941	Q05655	PRKCD	HPRD	PubMed
P15941	Q9BZZ2	SIGLEC1	HPRD	PubMed
P15941	NP_005624.2	SOS1	HPRD	PubMed
P15941	Q07889	SOS1	HPRD	PubMed
P15941	NP_005408.1	SRC	HPRD	PubMed
P15941	P12931	SRC	HPRD	PubMed
P15941	P43403	ZAP70	HPRD	PubMed
BioGRID:110669	BioGRID:106543	ABL1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:110669	BioGRID:106821	APC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110669	BioGRID:107880	CTNNB1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110669	BioGRID:107881	CTNND1	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:110669	BioGRID:198512	Ctnnb1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110669	BioGRID:108276	EGFR	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:110669	BioGRID:108376	ERBB2	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:110669	BioGRID:108377	ERBB3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110669	BioGRID:108378	ERBB4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110669	BioGRID:108403	ESR1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110669	BioGRID:122816	GALNT12	BioGRID	PubMed	Biochemical Activity
BioGRID:110669	BioGRID:114240	GALNT4	BioGRID	PubMed	Biochemical Activity
BioGRID:110669	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110669	BioGRID:109187	GSK3B	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110669	BioGRID:109767	IKBKB	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation
BioGRID:110669	BioGRID:114089	IKBKG	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110669	BioGRID:109928	JUN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110669	BioGRID:109931	JUP	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:110669	BioGRID:110245	LYN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110669	BioGRID:111566	PRKCD	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:110669	BioGRID:112537	SOS1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110669	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:110669	BioGRID:112771	TBP	BioGRID	PubMed	Co-localization
BioGRID:110669	BioGRID:112986	TNFRSF1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110669	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Reconstituted Complex

Pathways from BioSystems

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IL-7 Signaling Pathway, organism-specific biosystem (from WikiPathways)
IL-7 Signaling Pathway, organism-specific biosystemInterleukin-7 belongs to a family of cytokines, which includes IL-2, IL-4, IL-9, IL-15 and IL-21. It signals through a receptor complex consisting of IL-7 receptor alpha chain (IL7RA) and a common ga...
Metabolism of proteins, organism-specific biosystem (from REACTOME)
Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
Post-translational protein modification, organism-specific biosystem (from REACTOME)
Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
Termination of O-glycan biosynthesis, organism-specific biosystem (from REACTOME)
Termination of O-glycan biosynthesis, organism-specific biosystemO-glycan biosynthesis can be terminated (or modified) by the addition of sialic acid residues on Core 1 and 2 glycoproteins by sialyltransferases (Varki et al, 2009).

General gene information

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Markers

D1S3411 (e-PCR)
- UniSTS:13341

SHGC-12710 (e-PCR)
- UniSTS:86418

NoName (e-PCR)
- UniSTS:483268

Genotypes

See MUC1 SNP Geneview Report
See MUC1 SNP Genotype Report
See MUC1 SNP Variation Viewer Report

Homology

Homologs of the MUC1 gene: The MUC1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
p53 binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info
transcription cofactor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA Inferred from Direct Assay more info	PubMed
O-glycan processing	TAS Traceable Author Statement more info
cellular protein metabolic process	TAS Traceable Author Statement more info
negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription by competitive promoter binding	IDA Inferred from Direct Assay more info	PubMed
positive regulation of histone H4 acetylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription from RNA polymerase II promoter in response to stress	IDA Inferred from Direct Assay more info	PubMed
post-translational protein modification	TAS Traceable Author Statement more info
regulation of transcription from RNA polymerase II promoter in response to stress	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
Golgi lumen	TAS Traceable Author Statement more info
apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
cell surface	IBA Inferred from Biological aspect of Ancestor more info
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
extracellular region	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
nuclear chromatin	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mucin-1

Names: mucin-1; episialin; DF3 antigen; H23 antigen; cancer antigen 15-3; krebs von den Lungen-6; mucin 1, transmembrane; tumor-associated mucin; carcinoma-associated mucin; polymorphic epithelial mucin; peanut-reactive urinary mucin; tumor associated epithelial mucin; breast carcinoma-associated antigen DF3; tumor-associated epithelial membrane antigen

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

NG_029383.1 RefSeqGene

Range

5001..9407

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001018016.2 → NP_001018016.1 mucin-1 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses alternate in-frame splice sites for two exons, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AA425062, BC120975, J05581

Consensus CDS

CCDS30882.1

UniProtKB/Swiss-Prot

P15941

UniProtKB/TrEMBL

Q0VAP5

Related

ENSP00000357377, OTTHUMP00000033787, ENST00000368392, OTTHUMT00000086736

Conserved Domains (1) summary

smart00200
Location:45 – 161
Blast Score: 290

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001018017.2 → NP_001018017.1 mucin-1 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.

Source sequence(s)

AA425062, AL713999, BC120974, J05581

Consensus CDS

CCDS30883.1

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

smart00200
Location:36 – 152
Blast Score: 290

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001044390.2 → NP_001037855.1 mucin-1 isoform 5 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) has multiple differences which result in a frameshift in the central coding region, compared to variant 1. These differences result in a shorter isoform (5), compared to isoform 1.

Source sequence(s)

AA425062, AL713999, AY327582, J05581

Consensus CDS

CCDS41409.1

UniProtKB/Swiss-Prot

P15941
NM_001044391.2 → NP_001037856.1 mucin-1 isoform 6 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) has multiple differences but maintains the reading frame, compared to variant 1. These differences result in a shorter isoform (6), compared to isoform 1.

Source sequence(s)

AA425062, AL713999, AY327583, J05581

UniProtKB/Swiss-Prot

P15941

UniProtKB/TrEMBL

Q7Z551

Conserved Domains (2) summary

cl00944
Location:110 – 145
Blast Score: 78

KdpC; K+-transporting ATPase, c chain

cl02507
Location:36 – 76
Blast Score: 99

SEA; SEA domain
NM_001044392.2 → NP_001037857.1 mucin-1 isoform 7 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) has multiple differences but maintains the reading frame, compared to variant 1. These differences result in a shorter isoform (7), compared to isoform 1.

Source sequence(s)

AA425062, AL713999, AY327584, J05581

Consensus CDS

CCDS41408.1

UniProtKB/Swiss-Prot

P15941

UniProtKB/TrEMBL

Q7Z550

Conserved Domains (2) summary

cl00944
Location:119 – 154
Blast Score: 78

KdpC; K+-transporting ATPase, c chain

cl02507
Location:45 – 85
Blast Score: 99

SEA; SEA domain
NM_001044393.2 → NP_001037858.1 mucin-1 isoform 8 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (8) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA425062, AL713999, AY327598, J05581

UniProtKB/Swiss-Prot

P15941

UniProtKB/TrEMBL

Q7Z538
NM_001204285.1 → NP_001191214.1 mucin-1 isoform 9 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (9) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (9) is longer than isoform 1.

Source sequence(s)

AA425062, AL713999, J05581

Consensus CDS

CCDS55640.1

UniProtKB/TrEMBL

B1AVQ5

UniProtKB/Swiss-Prot

P15941

Related

ENSP00000357380, OTTHUMP00000033786, ENST00000368395, OTTHUMT00000086735

Conserved Domains (1) summary

smart00200
Location:254 – 372
Blast Score: 350

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204286.1 → NP_001191215.1 mucin-1 isoform 10 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (10) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (10) is longer than isoform 1.

Source sequence(s)

AA425062, AH001451, AL713999, J05581

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

smart00200
Location:263 – 381
Blast Score: 350

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204287.1 → NP_001191216.1 mucin-1 isoform 11 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (11) uses an alternate splice site, compared to variant 1. The encoded isoform (11) is longer than isoform 1.

Source sequence(s)

AA425062, EF583647, J05581

UniProtKB/TrEMBL

A5YRU5

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

smart00200
Location:64 – 179
Blast Score: 332

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204288.1 → NP_001191217.1 mucin-1 isoform 12 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (12) has multiple differences, one of which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (12) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA425062, EF583649, J05581

UniProtKB/TrEMBL

A5YRU7

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

smart00200
Location:45 – 150
Blast Score: 268

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204289.1 → NP_001191218.1 mucin-1 isoform 13 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (13) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (13) is shorter than isoform 1.

Source sequence(s)

AA425062, AL713999, EF583652, J05581

UniProtKB/TrEMBL

A5YRV0

UniProtKB/Swiss-Prot

P15941

Related

ENSP00000343482, ENST00000338684

Conserved Domains (1) summary

cl02507
Location:63 – 135
Blast Score: 188

SEA; SEA domain
NM_001204290.1 → NP_001191219.1 mucin-1 isoform 14 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (14) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (14) is shorter than isoform 1.

Source sequence(s)

AA425062, EF583654, J05581

UniProtKB/TrEMBL

A5YRV2

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

cl02507
Location:42 – 114
Blast Score: 187

SEA; SEA domain
NM_001204291.1 → NP_001191220.1 mucin-1 isoform 15 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (15) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (15) is shorter than isoform 1.

Source sequence(s)

AA425062, AL713999, EF670708, J05581

UniProtKB/TrEMBL

A6ZID6

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

smart00200
Location:62 – 138
Blast Score: 197

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204292.1 → NP_001191221.1 mucin-1 isoform 16 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (16) has multiple differences compared to variant 1, one of which results in a translational frameshift in the central coding region. The encoded isoform (16) is shorter than isoform 1.

Source sequence(s)

AA425062, AL713999, EF670709, J05581

UniProtKB/TrEMBL

A6ZID7

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

cl02507
Location:80 – 136
Blast Score: 153

SEA; SEA domain
NM_001204293.1 → NP_001191222.1 mucin-1 isoform 17 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (17) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (17) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA425062, AL713999, EF670711, J05581

Consensus CDS

CCDS55642.1

UniProtKB/TrEMBL

A6ZID9

UniProtKB/Swiss-Prot

P15941

Related

ENSP00000357378, ENST00000368393

Conserved Domains (1) summary

smart00200
Location:55 – 158
Blast Score: 301

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204294.1 → NP_001191223.1 mucin-1 isoform 18 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (18) has multiple differences compared to variant 1, one of which results in a translational frameshift in the central coding region. The encoded isoform (18) is shorter than isoform 1.

Source sequence(s)

AA425062, AL713999, EF670712, J05581

Consensus CDS

CCDS55641.1

UniProtKB/TrEMBL

A6ZIE0

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

cl02507
Location:71 – 127
Blast Score: 153

SEA; SEA domain
NM_001204295.1 → NP_001191224.1 mucin-1 isoform 19 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (19) has multiple differences but maintains the reading frame, compared to variant 1. These differences result in a shorter isoform (19), compared to isoform 1.

Source sequence(s)

AA425062, AL713999, EF670716, J05581

UniProtKB/TrEMBL

A6ZIE4

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

cl02507
Location:45 – 85
Blast Score: 101

SEA; SEA domain
NM_001204296.1 → NP_001191225.1 mucin-1 isoform 20 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (20) has multiple differences compared to variant 1, one of which results in a translational frameshift in the central coding region. The encoded isoform (20) is shorter than isoform 1.

Source sequence(s)

AA425062, FJ226053, J05581

UniProtKB/TrEMBL

B6ECB3

UniProtKB/Swiss-Prot

P15941
NM_001204297.1 → NP_001191226.1 mucin-1 isoform 21 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (21) has multiple differences but maintains the reading frame, compared to variant 1. These differences result in a shorter isoform (21), compared to isoform 1.

Source sequence(s)

AA425062, EF670718, J05581

UniProtKB/TrEMBL

A6ZIE6

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

cl02507
Location:64 – 103
Blast Score: 143

SEA; SEA domain
NM_002456.5 → NP_002447.4 mucin-1 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents isoform 1.

Source sequence(s)

AA425062, AL713999, J05581, U60261

Consensus CDS

CCDS1098.1

UniProtKB/Swiss-Prot

P15941

Conserved Domains (1) summary

smart00200
Location:55 – 170
Blast Score: 332

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p10 Primary Assembly

Range

155158300..155162706, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

126521570..126525810, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018912.1 Alternate CHM1_1.0

Range

161660317..161664059, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001018021.1: Suppressed sequence

Description

NM_001018021.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_182741.1: Suppressed sequence

Description

NM_182741.1: This RefSeq was permanently suppressed because currently there is insufficient support from non-cancerous tissues for the transcript and protein.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01016713.1 (20775..25015)	None
genomic	AL713999.28 (16788..21194)	None
genomic	AMYH01001426.1 (84504..88246)	None
genomic	AY463543.1	AAR18816.1
genomic	CH471121.2	EAW53116.1
		EAW53117.1
		EAW53119.1
genomic	JA362576.1	CCA94570.1
genomic	L38597.1	AAA57348.1
genomic	M35093.1	AAB59612.1
genomic	M61170.2	AAB53150.1
mRNA	AA425062.1	None
mRNA	AF125525.1	AAD27842.1
mRNA	AF348143.1	AAK30142.1
mRNA	AK301575.1	BAG63068.1
mRNA	AY327582.1	AAP97013.1
mRNA	AY327583.1	AAP97014.1
mRNA	AY327584.1	AAP97015.1
mRNA	AY327585.1	AAP97016.1
mRNA	AY327586.1	AAP97017.1
mRNA	AY327587.1	AAP97018.1
mRNA	AY327588.1	AAP97019.1
mRNA	AY327589.1	AAP97020.1
mRNA	AY327590.1	AAP97021.1
mRNA	AY327591.1	AAP97022.1
mRNA	AY327592.1	AAP97023.1
mRNA	AY327595.1	AAP97024.1
mRNA	AY327596.1	AAP97025.1
mRNA	AY327597.1	AAP97026.1
mRNA	AY327598.1	AAP97027.1
mRNA	AY327599.1	AAP97028.1
mRNA	AY327600.1	AAP97029.1
mRNA	AY466157.1	AAR28764.1
mRNA	BC120974.2	AAI20975.1
mRNA	BC120975.2	AAI20976.1
mRNA	BM969296.1	None
mRNA	BM971650.1	None
mRNA	EF583642.1	ABQ59617.1
mRNA	EF583643.1	ABQ59618.1
mRNA	EF583644.1	ABQ59619.1
mRNA	EF583645.1	ABQ59620.1
mRNA	EF583646.1	ABQ59621.1
mRNA	EF583647.1	ABQ59622.1
mRNA	EF583648.1	ABQ59623.1
mRNA	EF583649.1	ABQ59624.1
mRNA	EF583650.1	ABQ59625.1
mRNA	EF583651.1	ABQ59626.1
mRNA	EF583652.1	ABQ59627.1
mRNA	EF583653.1	ABQ59628.1
mRNA	EF583654.1	ABQ59629.1
mRNA	EF583655.1	ABQ59630.1
mRNA	EF583656.1	ABQ59631.1
mRNA	EF670706.1	ABS01293.1
mRNA	EF670707.1	ABS01294.1
mRNA	EF670708.1	ABS01295.1
mRNA	EF670709.1	ABS01296.1
mRNA	EF670710.1	ABS01297.1
mRNA	EF670711.1	ABS01298.1
mRNA	EF670712.1	ABS01299.1
mRNA	EF670713.1	ABS01300.1
mRNA	EF670714.1	ABS01301.1
mRNA	EF670715.1	ABS01302.1
mRNA	EF670716.1	ABS01303.1
mRNA	EF670717.1	ABS01304.1
mRNA	EF670718.1	ABS01305.1
mRNA	EF670719.1	ABS01306.1
mRNA	EF670720.1	ABS01307.1
mRNA	EF670721.1	ABS01308.1
mRNA	EF670722.1	ABS01309.1
mRNA	EF670723.1	ABS01310.1
mRNA	FJ226028.1	ACI25160.1
mRNA	FJ226029.1	ACI25161.1
mRNA	FJ226030.1	ACI25162.1
mRNA	FJ226031.1	ACI25163.1
mRNA	FJ226032.1	ACI25164.1
mRNA	FJ226033.1	ACI25165.1
mRNA	FJ226034.1	ACI25166.1
mRNA	FJ226035.1	ACI25167.1
mRNA	FJ226036.1	ACI25168.1
mRNA	FJ226037.1	ACI25169.1
mRNA	FJ226038.1	ACI25170.1
mRNA	FJ226039.1	ACI25171.1
mRNA	FJ226040.1	ACI25172.1
mRNA	FJ226041.1	ACI25173.1
mRNA	FJ226042.1	ACI25174.1
mRNA	FJ226043.1	ACI25175.1
mRNA	FJ226044.1	ACI25176.1
mRNA	FJ226045.1	ACI25177.1
mRNA	FJ226046.1	ACI25178.1
mRNA	FJ226047.1	ACI25179.1
mRNA	FJ226049.1	ACI25180.1
mRNA	FJ226050.1	ACI25181.1
mRNA	FJ226051.1	ACI25182.1
mRNA	FJ226052.1	ACI25183.1
mRNA	FJ226053.1	ACI25184.1
mRNA	FJ226054.1	ACI25185.1
mRNA	FJ226055.1	ACI25186.1
mRNA	J05581.1	AAA59876.1
mRNA	J05582.1	AAA60019.1
mRNA	M26316.1	AAA36336.1
mRNA	M31823.1	AAA35757.1
mRNA	M32738.1	AAA35804.1
mRNA	M32739.1	AAA35806.1
mRNA	M34088.1	AAA35805.1
mRNA	M34089.1	AAA35807.1
mRNA	S81736.1	AAD14369.1
mRNA	S81781.1	AAD14376.1
mRNA	U60259.1	AAD10856.1
mRNA	U60260.1	AAD10857.1
mRNA	U60261.1	AAD10858.1
mRNA	X52228.1	CAA36477.1
mRNA	X52229.1	CAA36478.1
mRNA	X80761.1	CAA56734.1
mRNA	Z17324.1	CAA78972.1
mRNA	Z17325.1	CAA78973.1