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

Summary

Official Symbol: MUC1provided by HGNC
Official Full Name: mucin 1, cell surface associatedprovided by HGNC
Primary source: HGNC:HGNC:7508
See related: Ensembl:ENSG00000185499 MIM:158340; AllianceGenome:HGNC:7508
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; MCD; PEM; PUM; KL-6; MAM6; MCKD; PEMT; CD227; H23AG; MCKD1; MUC-1; ADMCKD; ADTKD2; Ca15-3; ADMCKD1; 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]
Annotation information: Annotation category: suggests misassembly
Expression: Biased expression in stomach (RPKM 319.2), lung (RPKM 118.1) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (155185824..155192915, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (154325440..154331478, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (155158300..155162706, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TRPV4 activation in human corneal epithelial cells promotes membrane mucin production.
Title: TRPV4 activation in human corneal epithelial cells promotes membrane mucin production.
Serum YKL-40 and Serum Krebs von den Lungen-6 as Potential Predictive Biomarkers for Rheumatoid Arthritis-Associated Interstitial Lung Disease.
Title: Serum YKL-40 and Serum Krebs von den Lungen-6 as Potential Predictive Biomarkers for Rheumatoid Arthritis-Associated Interstitial Lung Disease.
Identification of MUC1-C as a Target for Suppressing Progression of Head and Neck Squamous Cell Carcinomas.
Title: Identification of MUC1-C as a Target for Suppressing Progression of Head and Neck Squamous Cell Carcinomas.
XIST and MUC1-C form an auto-regulatory pathway in driving cancer progression.
Title: XIST and MUC1-C form an auto-regulatory pathway in driving cancer progression.
NSUN2 affects diabetic retinopathy progression by regulating MUC1 expression through RNA m[5]C methylation.
Title: NSUN2 affects diabetic retinopathy progression by regulating MUC1 expression through RNA m(5)C methylation.
Mucin 1 and venous thrombosis in tumor-bearing mice and patients with cancer.
Title: Mucin 1 and venous thrombosis in tumor-bearing mice and patients with cancer.
Evaluation of mucin-1, nuclear factor kappaB, and hemoglobin A1c levels in obese and non-obese individuals.
Title: Evaluation of mucin-1, nuclear factor κB, and hemoglobin A1c levels in obese and non-obese individuals.
Eliminating the concept of unknown chronic kidney disease: 2 cases of autosomal dominant tubulointerstitial nephropathy with pathogenic variant MUC-1.
Title: Eliminating the concept of unknown chronic kidney disease: 2 cases of autosomal dominant tubulointerstitial nephropathy with pathogenic variant MUC-1.
Endometrial receptivity defects MUC-1 and COX-2 polymorphisms in endometriosis.
Title: Endometrial receptivity defects MUC-1 and COX-2 polymorphisms in endometriosis.
Disease progression and changes in KL-6 in patients with limited cutaneous systemic sclerosis-associated interstitial lung disease.
Title: Disease progression and changes in KL-6 in patients with limited cutaneous systemic sclerosis-associated interstitial lung disease.

Submit: New GeneRIF Correction See all GeneRIFs (864)

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

Associated conditions

Description	Tests
Tubulointerstitial kidney disease, autosomal dominant, 2 MedGen: C1868139 OMIM: 174000 GeneReviews: Autosomal Dominant Tubulointerstitial Kidney Disease -- MUC1	not available

EBI GWAS Catalog

Description
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 is inhibited by TNC (tenascin C), MUC1, and LTF (lactoferrin) as shown through neutralization assays in TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Both HIV-1 Nef and Vpu downregulate the cell surface expression of mucin 1 (CD227)	PubMed
Vpu	vpu	Both HIV-1 Nef and Vpu downregulate the cell surface expression of mucin 1 (CD227)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3411 (e-PCR)
- UniSTS:13341

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

NoName (e-PCR)
- UniSTS:483268

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response, signal transduction by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell adhesion mediated by integrin	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by competitive promoter binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: mucin-1

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

mRNA and Protein(s)

NM_001018016.3 → NP_001018016.1 mucin-1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001018016.1

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/TrEMBL

A5YRU8

Related

ENSP00000357377.3, ENST00000368392.7

Conserved Domains (1) summary

smart00200
Location:45 → 161

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

See identical proteins and their annotated locations for NP_001018017.1

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, AC234582, BC120974, J05581

Consensus CDS

CCDS30883.1

UniProtKB/TrEMBL

A5YRU8

Related

ENSP00000357375.3, ENST00000368390.7

Conserved Domains (1) summary

smart00200
Location:36 → 152

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001044390.3 → NP_001037855.1 mucin-1 isoform 5 precursor

See identical proteins and their annotated locations for NP_001037855.1

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, AC234582, AY327582, J05581

Consensus CDS

CCDS41409.1

UniProtKB/Swiss-Prot

P15941

Related

ENSP00000339690.5, ENST00000343256.9
NM_001044391.3 → 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, AC234582, AY327583, J05581

UniProtKB/TrEMBL

Q7Z551

Conserved Domains (2) summary

cl00944
Location:110 → 145

KdpC; K+-transporting ATPase, c chain

cl02507
Location:36 → 76

SEA; SEA domain
NM_001044392.3 → NP_001037857.1 mucin-1 isoform 7 precursor

See identical proteins and their annotated locations for NP_001037857.1

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, AC234582, AY327584, J05581

Consensus CDS

CCDS41408.1

UniProtKB/TrEMBL

A0A384NPK6, A6ZIE7

Related

ENSP00000357381.4, ENST00000368396.8

Conserved Domains (1) summary

cl02507
Location:45 → 85

SEA; SEA domain
NM_001044393.3 → NP_001037858.1 mucin-1 isoform 8 precursor

See identical proteins and their annotated locations for NP_001037858.1

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, AC234582, AY327598, J05581

UniProtKB/TrEMBL

Q7Z538

Related

ENSP00000484730.1, ENST00000471283.5
NM_001204285.2 → NP_001191214.1 mucin-1 isoform 9 precursor

See identical proteins and their annotated locations for NP_001191214.1

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, AC234582, J05581

Consensus CDS

CCDS55640.2

UniProtKB/TrEMBL

A0A0C4DGW3, B4DWK6

Related

ENSP00000481231.1, ENST00000620103.4

Conserved Domains (1) summary

smart00200
Location:254 → 372

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, AC234582, AH001451, J05581

UniProtKB/TrEMBL

B4DWK6

Conserved Domains (1) summary

smart00200
Location:263 → 381

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204287.2 → NP_001191216.1 mucin-1 isoform 11 precursor

See identical proteins and their annotated locations for NP_001191216.1

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, A6ZID5

Related

ENSP00000388172.3, ENST00000457295.6

Conserved Domains (1) summary

smart00200
Location:64 → 179

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204288.2 → NP_001191217.1 mucin-1 isoform 12 precursor

See identical proteins and their annotated locations for NP_001191217.1

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, B6ECB2

Conserved Domains (1) summary

smart00200
Location:45 → 150

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204289.2 → NP_001191218.1 mucin-1 isoform 13 precursor

See identical proteins and their annotated locations for NP_001191218.1

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, AC234582, EF583652, J05581

UniProtKB/TrEMBL

A5YRV0, A6ZID6

Related

ENSP00000389098.1, ENST00000438413.5

Conserved Domains (1) summary

cl02507
Location:63 → 135

SEA; SEA domain
NM_001204290.2 → NP_001191219.1 mucin-1 isoform 14 precursor

See identical proteins and their annotated locations for NP_001191219.1

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, B1AVQ7

Conserved Domains (1) summary

cl02507
Location:42 → 114

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, AC234582, EF670708, J05581

Consensus CDS

CCDS72934.1

UniProtKB/TrEMBL

A0A0A0MRB3, A6ZID6

Related

ENSP00000343482.6, ENST00000338684.9

Conserved Domains (1) summary

smart00200
Location:62 → 138

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, AC234582, EF670709, J05581

Consensus CDS

CCDS72935.1

UniProtKB/TrEMBL

A0A087X0L2, A6ZID7

Related

ENSP00000483482.1, ENST00000610359.4

Conserved Domains (1) summary

cl02507
Location:80 → 136

SEA; SEA domain
NM_001204293.2 → NP_001191222.1 mucin-1 isoform 17 precursor

See identical proteins and their annotated locations for NP_001191222.1

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, AC234582, EF670711, J05581

Consensus CDS

CCDS55642.1

UniProtKB/TrEMBL

B6ECB2

Related

ENSP00000357378.3, ENST00000368393.7

Conserved Domains (1) summary

smart00200
Location:55 → 158

SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
NM_001204294.2 → NP_001191223.1 mucin-1 isoform 18 precursor

See identical proteins and their annotated locations for NP_001191223.1

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, AC234582, EF670712, J05581

Consensus CDS

CCDS55641.1

UniProtKB/TrEMBL

A6ZID7

Related

ENSP00000357383.3, ENST00000368398.7

Conserved Domains (1) summary

cl02507
Location:71 → 127

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

See identical proteins and their annotated locations for NP_001191224.1

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, AC234582, EF670716, J05581

Consensus CDS

CCDS72936.1

UniProtKB/TrEMBL

A6ZIE4, Q7Z549

Related

ENSP00000483473.1, ENST00000615517.4

Conserved Domains (1) summary

cl02507
Location:45 → 85

SEA; SEA domain
NM_001204296.2 → NP_001191225.1 mucin-1 isoform 20 precursor

See identical proteins and their annotated locations for NP_001191225.1

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
NM_001204297.2 → NP_001191226.1 mucin-1 isoform 21 precursor

See identical proteins and their annotated locations for NP_001191226.1

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, A6ZIE7

Related

ENSP00000357374.2, ENST00000368389.6

Conserved Domains (2) summary

cl00944
Location:137 → 172

KdpC; K+-transporting ATPase, c chain

cl02507
Location:64 → 103

SEA; SEA domain
NM_001371720.2 → NP_001358649.2 mucin-1 isoform 22 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (22) has multiple differences but maintains the reading frame, compared to variant 1. The encoded isoform (22) is longer than isoform 1.

Source sequence(s)

CP068277
NM_002456.6 → NP_002447.4 mucin-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_002447.4

Status: REVIEWED

Description

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

Source sequence(s)

AA425062, AC234582, J05581, U60261

Consensus CDS

CCDS1098.1

UniProtKB/TrEMBL

A6ZID5

Related

ENSP00000338983.5, ENST00000337604.6

Conserved Domains (1) summary

smart00200
Location:55 → 170

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

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

155185824..155192915 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

154325440..154331478 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_029383.1: Suppressed sequence

Description

NG_029383.1: This RefSeq was removed because currently there is insufficient data to represent an accurate genomic sequence.
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.