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ELN elastin [ Homo sapiens (human) ]

Gene ID: 2006, updated on 8-May-2016
Official Symbol
ELNprovided by HGNC
Official Full Name
elastinprovided by HGNC
Primary source
HGNC:HGNC:3327
See related
Ensembl:ENSG00000049540 HPRD:00556; MIM:130160; Vega:OTTHUMG00000150229
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
WS; WBS; SVAS
Summary
This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
Location:
7q11.23
Exon count:
34
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (74027772..74069907)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73442119..73484237)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Williams Beuren syndrome chromosome region 27 Neighboring gene Williams-Beuren syndrome chromosome region 28 Neighboring gene LIM domain kinase 1 Neighboring gene eukaryotic translation initiation factor 4H Neighboring gene microRNA 590

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cutis laxa, autosomal dominant
MedGen: C0268350 OMIM: 123700 GeneReviews: FBLN5-Related Cutis Laxa
Compare labs
Supravalvar aortic stenosis
MedGen: C0003499 OMIM: 185500 GeneReviews: Not available
Compare labs
Williams syndrome
MedGen: C0175702 OMIM: 194050 GeneReviews: Williams Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-10)

ClinGen Genome Curation Page
  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ38671, FLJ43523

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood circulation TAS
Traceable Author Statement
more info
PubMed 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
respiratory gaseous exchange TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
elastic fiber IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 

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_009261.1 RefSeqGene

    Range
    4693..46811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000501.3NP_000492.2  elastin isoform a precursor

    See identical proteins and their annotated locations for NP_000492.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (a).
    Source sequence(s)
    AA600350, AC005056, BC035570
    Consensus CDS
    CCDS5562.2
    UniProtKB/Swiss-Prot
    P15502
    Related
    ENSP00000252034, OTTHUMP00000196667, ENST00000252034, OTTHUMT00000316913
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  2. NM_001081752.2NP_001075221.1  elastin isoform b precursor

    See identical proteins and their annotated locations for NP_001075221.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, BX538199
    Consensus CDS
    CCDS43599.1
    UniProtKB/Swiss-Prot
    P15502
    Related
    ENSP00000369949, OTTHUMP00000211860, ENST00000380575, OTTHUMT00000348232
    Conserved Domains (1) summary
    pfam05642
    Location:119173
    Sporozoite_P67; Sporozoite P67 surface antigen
  3. NM_001081753.2NP_001075222.1  elastin isoform c precursor

    See identical proteins and their annotated locations for NP_001075222.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, AK095990
    Consensus CDS
    CCDS47611.1
    UniProtKB/Swiss-Prot
    P15502
    Related
    ENSP00000391129, OTTHUMP00000211864, ENST00000429192, OTTHUMT00000348236
    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  4. NM_001081754.2NP_001075223.1  elastin isoform d precursor

    See identical proteins and their annotated locations for NP_001075223.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform d), compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, BX537939
    Consensus CDS
    CCDS43598.1
    UniProtKB/Swiss-Prot
    P15502
    Related
    ENSP00000349540, OTTHUMP00000211863, ENST00000357036, OTTHUMT00000348235
    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  5. NM_001081755.2NP_001075224.1  elastin isoform e precursor

    See identical proteins and their annotated locations for NP_001075224.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks alternate in-frame exons and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform e), compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, AK225659
    Consensus CDS
    CCDS47612.1
    UniProtKB/Swiss-Prot
    P15502
    Related
    ENSP00000369950, OTTHUMP00000211866, ENST00000380576, OTTHUMT00000348238
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  6. NM_001278912.1NP_001265841.1  elastin isoform f precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform f which is shorter compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, AK304845
    Consensus CDS
    CCDS64674.1
    UniProtKB/TrEMBL
    B4E3S4, E7ENM0
    Related
    ENSP00000389857, OTTHUMP00000211820, ENST00000445912, OTTHUMT00000348129
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  7. NM_001278913.1NP_001265842.1  elastin isoform g precursor

    See identical proteins and their annotated locations for NP_001265842.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame compared to variant 1. It encodes isoform g which is shorter compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, AK075554
    Consensus CDS
    CCDS64676.1
    UniProtKB/TrEMBL
    G5E950, Q8NBI4
    Related
    ENSP00000315607, OTTHUMP00000211857, ENST00000320492, OTTHUMT00000348229
    Conserved Domains (1) summary
    pfam05642
    Location:117171
    Sporozoite_P67; Sporozoite P67 surface antigen
  8. NM_001278914.1NP_001265843.1  elastin isoform h precursor

    See identical proteins and their annotated locations for NP_001265843.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two in-frame exons in the coding region compared to variant 1. It encodes isoform h which is shorter compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, AK125511
    Consensus CDS
    CCDS64677.1
    UniProtKB/TrEMBL
    G3V0G6, Q6ZUN2
    Related
    ENSP00000392575, OTTHUMP00000211858, ENST00000414324, OTTHUMT00000348230
    Conserved Domains (1) summary
    pfam05642
    Location:124178
    Sporozoite_P67; Sporozoite P67 surface antigen
  9. NM_001278915.1NP_001265844.1  elastin isoform i precursor

    See identical proteins and their annotated locations for NP_001265844.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate in-frame splice site in the central coding region compared to variant 1. It encodes isoform i which is longer compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, M36860
    Consensus CDS
    CCDS64673.1
    UniProtKB/Swiss-Prot
    P15502
    Related
    ENSP00000369936, OTTHUMP00000211859, ENST00000380562, OTTHUMT00000348231
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  10. NM_001278916.1NP_001265845.1  elastin isoform j precursor

    See identical proteins and their annotated locations for NP_001265845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) has multiple differences in the coding region but maintains the reading frame compared to variant 1. It encodes isoform j which is shorter compared to isoform a.
    Source sequence(s)
    AC005056, BC065566
    Consensus CDS
    CCDS64675.1
    UniProtKB/Swiss-Prot
    P15502
    Related
    ENSP00000369958, OTTHUMP00000211861, ENST00000380584, OTTHUMT00000348233
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  11. NM_001278917.1NP_001265846.1  elastin isoform k precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks an in-frame exon in the 3' coding region compared to variant 1. It encodes isoform k which is shorter compared to isoform a.
    Source sequence(s)
    AA600350, AB208942, AC005056
    Consensus CDS
    CCDS64678.1
    UniProtKB/TrEMBL
    E7EN65, Q59H17
    Related
    ENSP00000403162, OTTHUMP00000211862, ENST00000458204, OTTHUMT00000348234
    Conserved Domains (1) summary
    pfam05642
    Location:119173
    Sporozoite_P67; Sporozoite P67 surface antigen
  12. NM_001278918.1NP_001265847.1  elastin isoform l precursor

    See identical proteins and their annotated locations for NP_001265847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) has multiple differences in the coding region but maintains the reading frame compared to variant 1. It encodes isoform l which is shorter compared to isoform a.
    Source sequence(s)
    AA600350, AC005056, AK092232
    Consensus CDS
    CCDS75617.1
    UniProtKB/TrEMBL
    B3KRT8
    Related
    ENSP00000480955, ENST00000621115
  13. NM_001278939.1NP_001265868.1  elastin isoform m precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) has multiple difference in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (m) is longer than isoform a. This variant lacks full-length support. The structure is based on PMID: 9215671.
    Source sequence(s)
    AC005056
    Consensus CDS
    CCDS75616.1
    UniProtKB/TrEMBL
    F8WAH6
    Related
    ENSP00000351807, ENST00000358929
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    74027772..74069907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515870.1XP_011514172.1  

    Conserved Domains (1) summary
    pfam05642
    Location:122176
    Sporozoite_P67; Sporozoite P67 surface antigen
  2. XM_011515874.1XP_011514176.1  

    Conserved Domains (1) summary
    pfam05642
    Location:112166
    Sporozoite_P67; Sporozoite P67 surface antigen
  3. XM_011515875.1XP_011514177.1  

    Conserved Domains (1) summary
    pfam05642
    Location:107161
    Sporozoite_P67; Sporozoite P67 surface antigen
  4. XM_011515868.1XP_011514170.1  

    Related
    ENSP00000313565, OTTHUMP00000160564, ENST00000320399, OTTHUMT00000252377
    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  5. XM_011515876.1XP_011514178.1  

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  6. XM_011515873.1XP_011514175.1  

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  7. XM_011515872.1XP_011514174.1  

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  8. XM_011515877.1XP_011514179.1  

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  9. XM_011515871.1XP_011514173.1  

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  10. XM_005250187.1XP_005250244.1  

    Conserved Domains (1) summary
    pfam05642
    Location:117171
    Sporozoite_P67; Sporozoite P67 surface antigen
  11. XM_005250188.1XP_005250245.1  

    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  12. XM_011515869.1XP_011514171.1  

    Conserved Domains (1) summary
    pfam05642
    Location:124178
    Sporozoite_P67; Sporozoite P67 surface antigen

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    73587503..73629630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)