P15502 (ELN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Elastin

Alternative name(s):
Tropoelastin

Gene names

Name:

ELN

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	786 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle By similarity.
Subunit structure	The polymeric elastin chains are cross-linked together into an extensible 3D network. Forms a ternary complex with BGN and MFAP2. Interacts with MFAP2 via divalent cations (calcium > magnesium > manganese) in a dose-dependent and saturating manner.
Subcellular location	Secreted › extracellular space › extracellular matrix. Note: Extracellular matrix of elastic fibers.
Tissue specificity	Expressed within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus (at protein level). Also expressed in the large arteries, lung and skin. Ref.14
Post-translational modification	Elastin is formed through the cross-linking of its soluble precursor tropoelastin. Cross-linking is initiated through the action of lysyl oxidase on exposed lysines to form allysine. Subsequent spontaneous condensation reactions with other allysine or unmodified lysine residues result in various bi-, tri-, and tetrafunctional cross-links. The most abundant cross-links in mature elastin fibers are lysinonorleucine, allysine aldol, desmosine, and isodesmosine. Hydroxylation on proline residues within the sequence motif, GXPG, is most likely 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates By similarity.
Involvement in disease	Cutis laxa, autosomal dominant, 1 (ADCL1) [MIM:123700]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Supravalvular aortic stenosis (SVAS) [MIM:185500]: Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 ELN is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of ELN may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Sequence similarities	Belongs to the elastin family.
Sequence caution	The sequence CAD98065.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Williams-Beuren syndrome
Domain	Repeat Signal
PTM	Disulfide bond Hydroxylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood circulation Traceable author statement PubMed 8096434Ref.16. Source: ProtInc blood vessel remodeling Inferred from electronic annotation. Source: Compara cell proliferation Traceable author statement PubMed 9607766. Source: ProtInc extracellular matrix organization Inferred from electronic annotation. Source: Compara organ morphogenesis Traceable author statement PubMed 9580666. Source: ProtInc regulation of actin filament polymerization Inferred from electronic annotation. Source: Compara respiratory gaseous exchange Traceable author statement Ref.16. Source: ProtInc skeletal muscle tissue development Inferred from electronic annotation. Source: Compara stress fiber assembly Inferred from electronic annotation. Source: Compara
Cellular_component	elastic fiber Inferred from electronic annotation. Source: Compara mitochondrion Inferred from electronic annotation. Source: Compara proteinaceous extracellular matrix Non-traceable author statement. Source: UniProtKB
Molecular_function	extracellular matrix binding Inferred from electronic annotation. Source: Compara extracellular matrix constituent conferring elasticity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
EFEMP2	O95967	5	EBI-1222108,EBI-743414
FBLN5	Q9UBX5	3	EBI-1222108,EBI-947897
LOX	P28300	2	EBI-1222108,EBI-3893481

Alternative products

This entry describes 13 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 3 (identifier: P15502-3)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 1 (identifier: P15502-1)

The sequence of this isoform differs from the canonical sequence as follows:
     453-481: Missing.
     500-500: F → FALLNLA
     612-644: Missing.

Isoform 2 (identifier: P15502-2)

The sequence of this isoform differs from the canonical sequence as follows:
     453-481: Missing.
     612-644: Missing.

Isoform 4 (identifier: P15502-4)

The sequence of this isoform differs from the canonical sequence as follows:
     453-481: Missing.

Isoform 5 (identifier: P15502-5)

The sequence of this isoform differs from the canonical sequence as follows:
     125-125: A → AAPSVP
     453-481: Missing.
     612-644: Missing.
     740-757: Missing.

Note: No experimental confirmation available.

Isoform 6 (identifier: P15502-6)

The sequence of this isoform differs from the canonical sequence as follows:
     453-500: Missing.
     612-644: Missing.
     740-757: Missing.

Isoform 7 (identifier: P15502-7)

The sequence of this isoform differs from the canonical sequence as follows:
     45-54: Missing.
     453-500: Missing.
     612-644: Missing.
     740-757: Missing.

Note: No experimental confirmation available.

Isoform 8 (identifier: P15502-8)

The sequence of this isoform differs from the canonical sequence as follows:
     215-228: Missing.
     453-500: Missing.
     555-570: AAAKSAAKVAAKAQLR → G
     612-644: Missing.
     740-757: Missing.

Note: No experimental confirmation available.

Isoform 9 (identifier: P15502-9)

The sequence of this isoform differs from the canonical sequence as follows:
     500-500: F → FALLNLA

Note: No experimental confirmation available.

Isoform 10 (identifier: P15502-10)

The sequence of this isoform differs from the canonical sequence as follows:
     500-500: F → FALLNLA
     612-644: Missing.

Note: No experimental confirmation available.

Isoform 11 (identifier: P15502-11)

The sequence of this isoform differs from the canonical sequence as follows:
     78-180: Missing.
     215-228: Missing.
     453-500: Missing.
     612-644: Missing.
     740-757: Missing.

Note: No experimental confirmation available.

Isoform 12 (identifier: P15502-12)

The sequence of this isoform differs from the canonical sequence as follows:
     125-125: A → AAPSVP
     453-500: Missing.
     612-644: Missing.
     740-757: Missing.

Isoform 13 (identifier: P15502-13)

The sequence of this isoform differs from the canonical sequence as follows:
     453-500: Missing.
     612-644: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 26	26	By similarity
	Chain	27 – 786	760	Elastin		PRO_0000021163
Regions
	Compositional bias	97 – 102	6	Poly-Ala
	Compositional bias	236 – 742	507	Ala-rich
Amino acid modifications
	Modified residue	34	1	Hydroxyproline
	Modified residue	65	1	Hydroxyproline; partial
	Modified residue	67	1	Hydroxyproline; partial
	Modified residue	88	1	Hydroxyproline; partial
	Modified residue	104	1	Allysine By similarity
	Modified residue	116	1	4-hydroxyproline; partial Ref.18
	Modified residue	156	1	Hydroxyproline; partial
	Modified residue	167	1	Hydroxyproline; partial
	Modified residue	170	1	Hydroxyproline; partial
	Modified residue	177	1	Hydroxyproline; partial
	Modified residue	190	1	4-hydroxyproline; partial Ref.18 Ref.19
	Modified residue	241	1	Allysine By similarity
	Modified residue	261	1	Allysine By similarity
	Modified residue	265	1	Allysine By similarity
	Modified residue	283	1	4-hydroxyproline; partial Ref.19
	Modified residue	286	1	4-hydroxyproline; partial Ref.18 Ref.19
	Modified residue	290	1	Hydroxyproline; partial
	Modified residue	312	1	Allysine By similarity
	Modified residue	315	1	Allysine By similarity
	Modified residue	327	1	4-hydroxyproline; partial Ref.19
	Modified residue	342	1	4-hydroxyproline; partial Ref.19
	Modified residue	347	1	4-hydroxyproline; partial Ref.19
	Modified residue	352	1	Hydroxyproline; partial
	Modified residue	355	1	Hydroxyproline; partial
	Modified residue	360	1	4-hydroxyproline; partial Ref.19
	Modified residue	375	1	Allysine By similarity
	Modified residue	379	1	Allysine By similarity
	Modified residue	382	1	Allysine By similarity
	Modified residue	415	1	4-hydroxyproline; partial Ref.18
	Modified residue	421	1	Hydroxyproline; partial
	Modified residue	427	1	4-hydroxyproline; partial Ref.18 Ref.19
	Modified residue	451	1	Allysine By similarity
	Modified residue	465	1	Hydroxyproline; partial
	Modified residue	467	1	Hydroxyproline; partial
	Modified residue	481	1	4-hydroxyproline; partial Ref.18
	Modified residue	492	1	Allysine By similarity
	Modified residue	496	1	Allysine By similarity
	Modified residue	522	1	Hydroxyproline; partial
	Modified residue	550	1	Hydroxyproline; partial
	Modified residue	558	1	Allysine By similarity
	Modified residue	562	1	Allysine By similarity
	Modified residue	566	1	Allysine By similarity
	Modified residue	580	1	4-hydroxyproline; partial Ref.18 Ref.19
	Modified residue	589	1	4-hydroxyproline Probable
	Modified residue	598	1	4-hydroxyproline Probable
	Modified residue	607	1	4-hydroxyproline; partial Ref.18
	Modified residue	646	1	Hydroxyproline; partial
	Modified residue	653	1	Allysine By similarity
	Modified residue	656	1	Allysine By similarity
	Modified residue	677	1	4-hydroxyproline; partial Ref.18 Ref.19
	Modified residue	693	1	Allysine By similarity
	Modified residue	697	1	Allysine By similarity
	Modified residue	735	1	Allysine By similarity
	Modified residue	738	1	Allysine By similarity
	Modified residue	769	1	Hydroxyproline; partial
	Modified residue	772	1	Hydroxyproline; partial
	Disulfide bond	776 ↔ 781		By similarity
Natural variations
	Alternative sequence	45 – 54	10	Missing in isoform 7.		VSP_012479
	Alternative sequence	78 – 180	103	Missing in isoform 11.		VSP_012480
	Alternative sequence	125	1	A → AAPSVP in isoform 5 and isoform 12.		VSP_012481
	Alternative sequence	215 – 228	14	Missing in isoform 8 and isoform 11.		VSP_012482
	Alternative sequence	453 – 500	48	Missing in isoform 6, isoform 7, isoform 8, isoform 11, isoform 12 and isoform 13.		VSP_012483
	Alternative sequence	453 – 481	29	Missing in isoform 1, isoform 2, isoform 4 and isoform 5.		VSP_012484
	Alternative sequence	500	1	F → FALLNLA in isoform 1, isoform 9 and isoform 10.		VSP_012485
	Alternative sequence	555 – 570	16	AAAKS…KAQLR → G in isoform 8.		VSP_012486
	Alternative sequence	612 – 644	33	Missing in isoform 1, isoform 2, isoform 5, isoform 6, isoform 7, isoform 8, isoform 10, isoform 11, isoform 12 and isoform 13.		VSP_012487
	Alternative sequence	740 – 757	18	Missing in isoform 5, isoform 6, isoform 7, isoform 8, isoform 11 and isoform 12.		VSP_012488
	Natural variant	422	1	G → S. Ref.1 Ref.2 Ref.3 Ref.8 Ref.12 Ref.13 Ref.15 Corresponds to variant rs2071307 [ dbSNP | Ensembl ].		VAR_020882
	Natural variant	610	1	G → R. Ref.8 Ref.12 Corresponds to variant rs17855988 [ dbSNP | Ensembl ].		VAR_056869
Experimental info
	Sequence conflict	317	1	G → E in CAD97910. Ref.4
	Sequence conflict	467 – 469	3	PQA → APG in AAB65620. Ref.12
	Sequence conflict	467 – 469	3	PQA → APG in AAB65621. Ref.12
	Sequence conflict	553	1	V → I in BAC85506. Ref.3
	Sequence conflict	691	1	A → T in CAD98065. Ref.4
	Sequence conflict	773	1	G → D in CAD97910. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3 [UniParc]. Last modified October 5, 2010. Version 3. Checksum: D3C6F4EC6BC4991F	FASTA	786	68,469
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG 250 260 270 280 290 300 KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT 310 320 330 340 350 360 PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP 370 380 390 400 410 420 GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV 430 440 450 460 470 480 PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGAAGAGVL GGLVPGPQAA VPGVPGTGGV 490 500 510 520 530 540 PGVGTPAAAA AKAAAKAAQF GLVPGVGVAP GVGVAPGVGV APGVGLAPGV GVAPGVGVAP 550 560 570 580 590 600 GVGVAPGIGP GGVAAAAKSA AKVAAKAQLR AAAGLGAGIP GLGVGVGVPG LGVGAGVPGL 610 620 630 640 650 660 GVGAGVPGFG AGADEGVRRS LSPELREGDP SSSQHLPSTP SSPRVPGALA AAKAAKYGAA 670 680 690 700 710 720 VPGVLGGLGA LGGVGIPGGV VGAGPAAAAA AAKAAAKAAQ FGLVGAAGLG GLGVGGLGVP 730 740 750 760 770 780 GVGGLGGIPP AAAAKAAKYG AAGLGGVLGG AGQFPLGGVA ARPGFGLSPI FPGGACLGKA CGRKRK
	Isoform 1 [UniParc]. Checksum: B38B11526A0CB52D	FASTA	730	63,230
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG 250 260 270 280 290 300 KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT 310 320 330 340 350 360 PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP 370 380 390 400 410 420 GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV 430 440 450 460 470 480 PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FALLNLAGLV 490 500 510 520 530 540 PGVGVAPGVG VAPGVGVAPG VGLAPGVGVA PGVGVAPGVG VAPGIGPGGV AAAAKSAAKV 550 560 570 580 590 600 AAKAQLRAAA GLGAGIPGLG VGVGVPGLGV GAGVPGLGVG AGVPGFGAVP GALAAAKAAK 610 620 630 640 650 660 YGAAVPGVLG GLGALGGVGI PGGVVGAGPA AAAAAAKAAA KAAQFGLVGA AGLGGLGVGG 670 680 690 700 710 720 LGVPGVGGLG GIPPAAAAKA AKYGAAGLGG VLGGAGQFPL GGVAARPGFG LSPIFPGGAC 730 LGKACGRKRK
	Isoform 2 [UniParc]. Checksum: 0A7E4424F9EC0F78	FASTA	724	62,634
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG 250 260 270 280 290 300 KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT 310 320 330 340 350 360 PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP 370 380 390 400 410 420 GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV 430 440 450 460 470 480 PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA 490 500 510 520 530 540 PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL 550 560 570 580 590 600 RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAVPGALAAA KAAKYGAAVP 610 620 630 640 650 660 GVLGGLGALG GVGIPGGVVG AGPAAAAAAA KAAAKAAQFG LVGAAGLGGL GVGGLGVPGV 670 680 690 700 710 720 GGLGGIPPAA AAKAAKYGAA GLGGVLGGAG QFPLGGVAAR PGFGLSPIFP GGACLGKACG RKRK
	Isoform 4 [UniParc]. Checksum: 2B24F955D8360738	FASTA	757	66,106
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG 250 260 270 280 290 300 KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT 310 320 330 340 350 360 PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP 370 380 390 400 410 420 GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV 430 440 450 460 470 480 PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA 490 500 510 520 530 540 PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL 550 560 570 580 590 600 RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAGADEGVRR SLSPELREGD 610 620 630 640 650 660 PSSSQHLPST PSSPRVPGAL AAAKAAKYGA AVPGVLGGLG ALGGVGIPGG VVGAGPAAAA 670 680 690 700 710 720 AAAKAAAKAA QFGLVGAAGL GGLGVGGLGV PGVGGLGGIP PAAAAKAAKY GAAGLGGVLG 730 740 750 GAGQFPLGGV AARPGFGLSP IFPGGACLGK ACGRKRK
	Isoform 5 [UniParc]. Checksum: 151A0A4E089B3A5C	FASTA	711	61,605
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAAPSVP GAVVPQPGAG VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV 190 200 210 220 230 240 KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV 250 260 270 280 290 300 AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGAAGVLP GVGGAGVPGV PGAIPGIGGI 310 320 330 340 350 360 AGVGTPAAAA AAAAAAKAAK YGAAAGLVPG GPGFGPGVVG VPGAGVPGVG VPGAGIPVVP 370 380 390 400 410 420 GAGIPGAAVP GVVSPEAAAK AAAKAAKYGA RPGVGVGGIP TYGVGAGGFP GFGVGVGGIP 430 440 450 460 470 480 GVAGVPGVGG VPGVGGVPGV GISPEAQAAA AAKAAKYGVG TPAAAAAKAA AKAAQFGLVP 490 500 510 520 530 540 GVGVAPGVGV APGVGVAPGV GLAPGVGVAP GVGVAPGVGV APGIGPGGVA AAAKSAAKVA 550 560 570 580 590 600 AKAQLRAAAG LGAGIPGLGV GVGVPGLGVG AGVPGLGVGA GVPGFGAVPG ALAAAKAAKY 610 620 630 640 650 660 GAAVPGVLGG LGALGGVGIP GGVVGAGPAA AAAAAKAAAK AAQFGLVGAA GLGGLGVGGL 670 680 690 700 710 GVPGVGGLGG IPPAAAAKAA KYGVAARPGF GLSPIFPGGA CLGKACGRKR K
	Isoform 6 [UniParc]. Checksum: 86446D90C8E2664F	FASTA	687	59,500
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG 250 260 270 280 290 300 KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT 310 320 330 340 350 360 PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP 370 380 390 400 410 420 GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV 430 440 450 460 470 480 PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP 490 500 510 520 530 540 GVGVAPGVGV APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV 550 560 570 580 590 600 PGLGVGAGVP GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV 610 620 630 640 650 660 GAGPAAAAAA AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGV 670 680 AARPGFGLSP IFPGGACLGK ACGRKRK
	Isoform 7 [UniParc]. Checksum: C5082D1C00A310BA	FASTA	677	58,789
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL 70 80 90 100 110 120 AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP 130 140 150 160 170 180 QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP 190 200 210 220 230 240 GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV 250 260 270 280 290 300 GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA 310 320 330 340 350 360 AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP 370 380 390 400 410 420 EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG 430 440 450 460 470 480 GVPGVGISPE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP GVGVAPGVGV 490 500 510 520 530 540 APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV PGLGVGAGVP 550 560 570 580 590 600 GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV GAGPAAAAAA 610 620 630 640 650 660 AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGV AARPGFGLSP 670 IFPGGACLGK ACGRKRK
	Isoform 8 [UniParc]. Checksum: 5DAFC55566AB809B	FASTA	658	56,551
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGYGPGG VAGAAGKAGY PTGTGVGPQA 250 260 270 280 290 300 AAAAAAKAAA KFGAGAAGVL PGVGGAGVPG VPGAIPGIGG IAGVGTPAAA AAAAAAAKAA 310 320 330 340 350 360 KYGAAAGLVP GGPGFGPGVV GVPGAGVPGV GVPGAGIPVV PGAGIPGAAV PGVVSPEAAA 370 380 390 400 410 420 KAAAKAAKYG ARPGVGVGGI PTYGVGAGGF PGFGVGVGGI PGVAGVPGVG GVPGVGGVPG 430 440 450 460 470 480 VGISPEAQAA AAAKAAKYGL VPGVGVAPGV GVAPGVGVAP GVGLAPGVGV APGVGVAPGV 490 500 510 520 530 540 GVAPGIGPGG VAGAAAGLGA GIPGLGVGVG VPGLGVGAGV PGLGVGAGVP GFGAVPGALA 550 560 570 580 590 600 AAKAAKYGAA VPGVLGGLGA LGGVGIPGGV VGAGPAAAAA AAKAAAKAAQ FGLVGAAGLG 610 620 630 640 650 GLGVGGLGVP GVGGLGGIPP AAAAKAAKYG VAARPGFGLS PIFPGGACLG KACGRKRK
	Isoform 9 [UniParc]. Checksum: 35AAC849F2DC2EC6	FASTA	792	69,064
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG 250 260 270 280 290 300 KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT 310 320 330 340 350 360 PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP 370 380 390 400 410 420 GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV 430 440 450 460 470 480 PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGAAGAGVL GGLVPGPQAA VPGVPGTGGV 490 500 510 520 530 540 PGVGTPAAAA AKAAAKAAQF ALLNLAGLVP GVGVAPGVGV APGVGVAPGV GLAPGVGVAP 550 560 570 580 590 600 GVGVAPGVGV APGIGPGGVA AAAKSAAKVA AKAQLRAAAG LGAGIPGLGV GVGVPGLGVG 610 620 630 640 650 660 AGVPGLGVGA GVPGFGAGAD EGVRRSLSPE LREGDPSSSQ HLPSTPSSPR VPGALAAAKA 670 680 690 700 710 720 AKYGAAVPGV LGGLGALGGV GIPGGVVGAG PAAAAAAAKA AAKAAQFGLV GAAGLGGLGV 730 740 750 760 770 780 GGLGVPGVGG LGGIPPAAAA KAAKYGAAGL GGVLGGAGQF PLGGVAARPG FGLSPIFPGG 790 ACLGKACGRK RK
	Isoform 10 [UniParc]. Checksum: E8E4CBC20D02A185	FASTA	759	65,593
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG 250 260 270 280 290 300 KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT 310 320 330 340 350 360 PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP 370 380 390 400 410 420 GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV 430 440 450 460 470 480 PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGAAGAGVL GGLVPGPQAA VPGVPGTGGV 490 500 510 520 530 540 PGVGTPAAAA AKAAAKAAQF ALLNLAGLVP GVGVAPGVGV APGVGVAPGV GLAPGVGVAP 550 560 570 580 590 600 GVGVAPGVGV APGIGPGGVA AAAKSAAKVA AKAQLRAAAG LGAGIPGLGV GVGVPGLGVG 610 620 630 640 650 660 AGVPGLGVGA GVPGFGAVPG ALAAAKAAKY GAAVPGVLGG LGALGGVGIP GGVVGAGPAA 670 680 690 700 710 720 AAAAAKAAAK AAQFGLVGAA GLGGLGVGGL GVPGVGGLGG IPPAAAAKAA KYGAAGLGGV 730 740 750 LGGAGQFPLG GVAARPGFGL SPIFPGGACL GKACGRKRK
	Isoform 11 [UniParc]. Checksum: 6C9128F3D079D9B0	FASTA	570	48,897
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGVG GAFAGIPGVG PFGGPQPGVP LGYPIKAPKL PGYGPGGVAG 130 140 150 160 170 180 AAGKAGYPTG TGVGPQAAAA AAAKAAAKFG AGAAGVLPGV GGAGVPGVPG AIPGIGGIAG 190 200 210 220 230 240 VGTPAAAAAA AAAAKAAKYG AAAGLVPGGP GFGPGVVGVP GAGVPGVGVP GAGIPVVPGA 250 260 270 280 290 300 GIPGAAVPGV VSPEAAAKAA AKAAKYGARP GVGVGGIPTY GVGAGGFPGF GVGVGGIPGV 310 320 330 340 350 360 AGVPGVGGVP GVGGVPGVGI SPEAQAAAAA KAAKYGLVPG VGVAPGVGVA PGVGVAPGVG 370 380 390 400 410 420 LAPGVGVAPG VGVAPGVGVA PGIGPGGVAA AAKSAAKVAA KAQLRAAAGL GAGIPGLGVG 430 440 450 460 470 480 VGVPGLGVGA GVPGLGVGAG VPGFGAVPGA LAAAKAAKYG AAVPGVLGGL GALGGVGIPG 490 500 510 520 530 540 GVVGAGPAAA AAAAKAAAKA AQFGLVGAAG LGGLGVGGLG VPGVGGLGGI PPAAAAKAAK 550 560 570 YGVAARPGFG LSPIFPGGAC LGKACGRKRK
	Isoform 12 [UniParc]. Checksum: 65D038D48352C5E9	FASTA	692	59,951
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAAPSVP GAVVPQPGAG VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV 190 200 210 220 230 240 KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV 250 260 270 280 290 300 AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGAAGVLP GVGGAGVPGV PGAIPGIGGI 310 320 330 340 350 360 AGVGTPAAAA AAAAAAKAAK YGAAAGLVPG GPGFGPGVVG VPGAGVPGVG VPGAGIPVVP 370 380 390 400 410 420 GAGIPGAAVP GVVSPEAAAK AAAKAAKYGA RPGVGVGGIP TYGVGAGGFP GFGVGVGGIP 430 440 450 460 470 480 GVAGVPGVGG VPGVGGVPGV GISPEAQAAA AAKAAKYGLV PGVGVAPGVG VAPGVGVAPG 490 500 510 520 530 540 VGLAPGVGVA PGVGVAPGVG VAPGIGPGGV AAAAKSAAKV AAKAQLRAAA GLGAGIPGLG 550 560 570 580 590 600 VGVGVPGLGV GAGVPGLGVG AGVPGFGAVP GALAAAKAAK YGAAVPGVLG GLGALGGVGI 610 620 630 640 650 660 PGGVVGAGPA AAAAAAKAAA KAAQFGLVGA AGLGGLGVGG LGVPGVGGLG GIPPAAAAKA 670 680 690 AKYGVAARPG FGLSPIFPGG ACLGKACGRK RK
	Isoform 13 [UniParc]. Checksum: 78F444C823E5F8B4	FASTA	705	60,980
	10 20 30 40 50 60 MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG 70 80 90 100 110 120 KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG 130 140 150 160 170 180 LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP 190 200 210 220 230 240 GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG 250 260 270 280 290 300 KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT 310 320 330 340 350 360 PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP 370 380 390 400 410 420 GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV 430 440 450 460 470 480 PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP 490 500 510 520 530 540 GVGVAPGVGV APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV 550 560 570 580 590 600 PGLGVGAGVP GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV 610 620 630 640 650 660 GAGPAAAAAA AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGA 670 680 690 700 AGLGGVLGGA GQFPLGGVAA RPGFGLSPIF PGGACLGKAC GRKRK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA." Indik Z., Yeh H., Ornstein-Goldstein N., Sheppard P., Anderson N., Rosenbloom J.C., Peltonen L., Rosenbloom J. Proc. Natl. Acad. Sci. U.S.A. 84:5680-5684(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2; 3; 4 AND 6), VARIANT SER-422.
[2]	"Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides." Fazio M.J., Olsen D.R., Kauh E.A., Baldwin C.T., Indik Z., Ornstein-Goldstein N., Yeh H., Rosenbloom J., Uitto J. J. Invest. Dermatol. 91:458-464(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-422. Tissue: Skin fibroblast.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 11 AND 12), VARIANT SER-422.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 7). Tissue: Fetal kidney.
[5]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 13). Tissue: Gastric mucosa.
[6]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 8), VARIANTS SER-422 AND ARG-610. Tissue: Eye.
[9]	"Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region." Bashir M.M., Indik Z., Yeh H., Ornstein-Goldstein N., Rosenbloom J.C., Abrams W., Fazio M., Uitto J., Rosenbloom J. J. Biol. Chem. 264:8887-8891(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 1-27.
[10]	Bressan G.M. Submitted (JUN-1989) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 1-27.
[11]	Bressan G.M. Submitted (OCT-1991) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[12]	"Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis." Li D.Y., Toland A.E., Boak B.B., Atkinson D.L., Ensing G.J., Morris C.A., Keating M.T. Hum. Mol. Genet. 6:1021-1028(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-657 (ISOFORMS 9 AND 10), VARIANTS SER-422 AND ARG-610.
[13]	"Isolation and characterization of human elastin cDNAs, and age-associated variation in elastin gene expression in cultured skin fibroblasts." Fazio M.J., Olsen D.R., Kuivaniemi H., Chu M.L., Davidson J.M., Rosenbloom J., Uitto J. Lab. Invest. 58:270-277(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 164-724 (ISOFORM 2), VARIANT SER-422. Tissue: Placenta.
[14]	"Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients." Osborne L.R., Martindale D.W., Scherer S.W., Shi X.-M., Huizenga J., Heng H.H.Q., Costa T., Pober B., Lew L., Brinkman J., Rommens J., Koop B.F., Tsui L.-C. Genomics 36:328-336(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 496-786 (ISOFORM 1/10), TISSUE SPECIFICITY.
[15]	"LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition." Frangiskakis J.M., Ewart A.K., Morris C.A., Mervis C.B., Bertrand J., Robinson B.F., Klein B.P., Ensing G.J., Everett L.A., Green E.D., Proeschel C., Gutowski N.J., Noble M., Atkinson D.L., Odelberg S.J., Keating M.T. Cell 86:59-69(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 659-786, VARIANT SER-422. Tissue: Hippocampus and Placenta.
[16]	"Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)." Zhang M.-C., He L., Giro M., Yong S.L., Tiller G.E., Davidson J.M. J. Biol. Chem. 274:981-986(1999) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN ADCL1.
[17]	"Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay." Urban Z., Michels V.V., Thibodeau S.N., Davis E.C., Bonnefont J.-P., Munnich A., Eyskens B., Gewillig M., Devriendt K., Boyd C.D. Hum. Genet. 106:577-588(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SVAS.
[18]	"Mass spectrometric characterization of human skin elastin peptides produced by proteolytic digestion with pepsin and thermitase." Schmelzer C.E.H., Getie M., Neubert R.H.H. J. Chromatogr. A 1083:120-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: HYDROXYLATION AT PRO-65; PRO-67; PRO-88; PRO-116; PRO-156; PRO-177; PRO-190; PRO-286; PRO-290; PRO-415; PRO-427; PRO-465; PRO-467; PRO-481; PRO-522; PRO-580; PRO-607; PRO-646; PRO-677; PRO-769 AND PRO-772, MASS SPECTROMETRY.
[19]	"Characterization of peptides resulting from digestion of human skin elastin with elastase." Getie M., Schmelzer C.E.H., Neubert R.H.H. Proteins 61:649-657(2005) [PubMed] [Europe PMC] [Abstract] Cited for: HYDROXYLATION AT PRO-34; PRO-167; PRO-170; PRO-190; PRO-283; PRO-286; PRO-327; PRO-342; PRO-347; PRO-352; PRO-355; PRO-360; PRO-421; PRO-427; PRO-550; PRO-580; PRO-589; PRO-598 AND PRO-677, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

GeneReviews

Wikipedia

Elastin entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	M17282 , M16983, M17265, M17266, M17267, M17268, M17271, M17272, M17273, M17275, M17276, M17277, M17278, M17279, M17281 Genomic DNA. Translation: AAC98393.1. M17282 , M16983, M17265, M17266, M17267, M17268, M17270, M17271, M17272, M17273, M17275, M17276, M17277, M17278, M17279, M17280, M17281 Genomic DNA. Translation: AAC98394.1. M17282 , M16983, M17265, M17266, M17267, M17268, M17270, M17271, M17272, M17273, M17274, M17275, M17276, M17277, M17278, M17279, M17280, M17281 Genomic DNA. Translation: AAC98395.1. M36860 mRNA. Translation: AAA52382.1. AK095990 mRNA. Translation: BAG53188.1. AK122731 mRNA. Translation: BAC85506.1. BX537939 mRNA. Translation: CAD97910.1. BX538199 mRNA. Translation: CAD98065.1. Different initiation. AK225659 mRNA. No translation available. AC005056 Genomic DNA. Translation: AAS07435.1. CH471200 Genomic DNA. Translation: EAW69627.1. BC065566 mRNA. Translation: AAH65566.1. X15603 Genomic DNA. Translation: CAA33627.1. U93037 , U93034, U93035, U93036 Genomic DNA. Translation: AAB65620.1. U93037 , U93034, U93035, U93036 Genomic DNA. Translation: AAB65621.1. M24782 mRNA. Translation: AAA53190.1. U63721 Genomic DNA. Translation: AAC13884.1. U62292 Genomic DNA. Translation: AAB17544.1.
IPI	IPI00163202. IPI00177942. IPI00446835. IPI00472548. IPI00513726. IPI00514196. IPI00514508. IPI00515021. IPI00829923. IPI00902812. IPI00925620. IPI00984118. IPI01010725.
PIR	EAHU. A32707.
RefSeq	NP_000492.2. NM_000501.2. NP_001075221.1. NM_001081752.1. NP_001075222.1. NM_001081753.1. NP_001075223.1. NM_001081754.1. NP_001075224.1. NM_001081755.1.
UniGene	Hs.647061.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P15502. 7 interactions.
PTM databases
PhosphoSite	P15502.
Polymorphism databases
DMDM	306526276.
Proteomic databases
PaxDb	P15502.
PRIDE	P15502.
Protocols and materials databases
DNASU	2006.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252034; ENSP00000252034; ENSG00000049540. ENST00000320399; ENSP00000313565; ENSG00000049540. ENST00000357036; ENSP00000349540; ENSG00000049540. ENST00000380553; ENSP00000369926; ENSG00000049540. ENST00000380562; ENSP00000369936; ENSG00000049540. ENST00000380575; ENSP00000369949; ENSG00000049540. ENST00000380576; ENSP00000369950; ENSG00000049540. ENST00000380584; ENSP00000369958; ENSG00000049540. ENST00000429192; ENSP00000391129; ENSG00000049540. ENST00000570795; ENSP00000459197; ENSG00000262184. ENST00000571321; ENSP00000460375; ENSG00000262184. ENST00000572979; ENSP00000461042; ENSG00000262184. ENST00000573296; ENSP00000461780; ENSG00000262184. ENST00000573446; ENSP00000461371; ENSG00000262184. ENST00000573673; ENSP00000459103; ENSG00000262184. ENST00000575260; ENSP00000460737; ENSG00000262184. ENST00000576288; ENSP00000460338; ENSG00000262184. ENST00000576801; ENSP00000458848; ENSG00000262184.
GeneID	2006.
KEGG	hsa:2006.
UCSC	uc003tzn.3. human. uc003tzo.3. human. uc003tzq.3. human. uc003tzs.3. human. uc003tzt.3. human. uc003tzu.3. human. uc003tzv.3. human. uc003tzw.3. human.
Organism-specific databases
CTD	2006.
GeneCards	GC07P073442.
H-InvDB	HIX0006761.
HGNC	HGNC:3327. ELN.
HPA	CAB010750. HPA018111.
MIM	123700. phenotype. 130160. gene. 185500. phenotype.
neXtProt	NX_P15502.
Orphanet	90348. Autosomal dominant cutis laxa. 3193. Supravalvular aortic stenosis. 904. Williams syndrome.
PharmGKB	PA27757.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG331579.
InParanoid	P15502.
KO	K14211.
Enzyme and pathway databases
Reactome	REACT_118779. Extracellular matrix organization.
Gene expression databases
ArrayExpress	P15502.
Bgee	P15502.
Genevestigator	P15502.
GermOnline	ENSG00000049540. Homo sapiens.
Family and domain databases
InterPro	IPR003979. Tropoelastin. [Graphical view]
PRINTS	PR01500. TROPOELASTIN.
ProtoNet	Search...
Other
ChiTaRS	ELN. human.
DrugBank	DB00533. Rofecoxib.
GenomeRNAi	2006.
NextBio	8119.
PMAP-CutDB	P15502.
SOURCE	Search...

Entry information

Entry name

ELN_HUMAN

Accession

Primary (citable) accession number: P15502
Secondary accession number(s): B3KTS6 , O15336, O15337, Q14233, Q14234, Q14235, Q14238, Q6P0L4, Q6ZWJ6, Q75MU5, Q7Z316, Q7Z3F5, Q9UMF5

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	October 5, 2010
Last modified:	May 1, 2013
This is version 152 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.