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Q96HD1

- CREL1_HUMAN

UniProt

Q96HD1 - CREL1_HUMAN

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Protein

Cysteine-rich with EGF-like domain protein 1

Gene
CRELD1, CIRRIN, UNQ188/PRO214
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. cardiac septum development Source: BHF-UCL
  2. endocardial cushion development Source: BHF-UCL
Complete GO annotation...

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Cysteine-rich with EGF-like domain protein 1
Gene namesi
Name:CRELD1
Synonyms:CIRRIN
ORF Names:UNQ188/PRO214
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:14630. CRELD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini30 – 362333Extracellular Reviewed predictionAdd
BLAST
Transmembranei363 – 38321Helical; Reviewed predictionAdd
BLAST
Topological domaini384 – 3841Cytoplasmic Reviewed prediction
Transmembranei385 – 40521Helical; Reviewed predictionAdd
BLAST
Topological domaini406 – 42015Extracellular Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071R → H in AVSD2 susceptibility; with heterotaxy syndrome. 1 Publication
Corresponds to variant rs28941780 [ dbSNP | Ensembl ].
VAR_023764
Natural varianti162 – 1621P → A in AVSD2 susceptibility. 1 Publication
VAR_023765
Natural varianti311 – 3111T → I in AVSD2 susceptibility. 1 Publication
Corresponds to variant rs28942092 [ dbSNP | Ensembl ].
VAR_023766
Natural varianti329 – 3291R → C in AVSD2 susceptibility. 1 Publication
Corresponds to variant rs28942091 [ dbSNP | Ensembl ].
VAR_023767

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi606217. phenotype.
Orphaneti99068. Complete atrioventricular canal - Fallot tetralogy.
99066. Complete atrioventricular canal - left heart obstruction.
99067. Complete atrioventricular canal - ventricle hypoplasia.
1330. Partial atrioventricular canal.
PharmGKBiPA26870.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929 Reviewed predictionAdd
BLAST
Chaini30 – 420391Cysteine-rich with EGF-like domain protein 1PRO_0000042781Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi79 – 791N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi155 ↔ 169 By similarity
Disulfide bondi163 ↔ 181 By similarity
Disulfide bondi183 ↔ 192 By similarity
Glycosylationi205 – 2051N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi309 ↔ 321 By similarity
Disulfide bondi314 ↔ 330 By similarity
Disulfide bondi332 ↔ 343 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ96HD1.
PaxDbiQ96HD1.
PRIDEiQ96HD1.

Expressioni

Tissue specificityi

Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.1 Publication

Inductioni

Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and thapsigargin.1 Publication

Gene expression databases

ArrayExpressiQ96HD1.
BgeeiQ96HD1.
CleanExiHS_CRELD1.
GenevestigatoriQ96HD1.

Organism-specific databases

HPAiHPA026964.

Interactioni

Protein-protein interaction databases

BioGridi122458. 10 interactions.
IntActiQ96HD1. 10 interactions.
MINTiMINT-1375344.
STRINGi9606.ENSP00000295982.

Structurei

3D structure databases

ProteinModelPortaliQ96HD1.
SMRiQ96HD1. Positions 135-197, 281-346.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini153 – 19341EGF-like 1Add
BLAST
Repeati208 – 25649FU 1Add
BLAST
Repeati268 – 31548FU 2Add
BLAST
Domaini305 – 34440EGF-like 2; calcium-binding Reviewed predictionAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi3 – 4543Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the CRELD family.
Contains 2 EGF-like domains.

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG315654.
HOGENOMiHOG000004778.
HOVERGENiHBG081344.
OMAiEPHPCHT.
PhylomeDBiQ96HD1.
TreeFamiTF316507.

Family and domain databases

InterProiIPR021852. DUF3456.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR002049. EGF_laminin.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view]
PfamiPF11938. DUF3456. 2 hits.
PF07645. EGF_CA. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 1 hit.
SM00179. EGF_CA. 1 hit.
SM00261. FU. 2 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 1 hit.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 2 hits.
PS01187. EGF_CA. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q96HD1-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAPWPPKGLV PAMLWGLSLF LNLPGPIWLQ PSPPPQSSPP PQPHPCHTCR    50
GLVDSFNKGL ERTIRDNFGG GNTAWEEENL SKYKDSETRL VEVLEGVCSK 100
SDFECHRLLE LSEELVESWW FHKQQEAPDL FQWLCSDSLK LCCPAGTFGP 150
SCLPCPGGTE RPCGGYGQCE GEGTRGGSGH CDCQAGYGGE ACGQCGLGYF 200
EAERNASHLV CSACFGPCAR CSGPEESNCL QCKKGWALHH LKCVDIDECG 250
TEGANCGADQ FCVNTEGSYE CRDCAKACLG CMGAGPGRCK KCSPGYQQVG 300
SKCLDVDECE TEVCPGENKQ CENTEGGYRC ICAEGYKQME GICVKEQIPE 350
SAGFFSEMTE DELVVLQQMF FGIIICALAT LAAKGDLVFT AIFIGAVAAM 400
TGYWLSERSD RVLEGFIKGR 420
Length:420
Mass (Da):45,440
Last modified:October 14, 2008 - v3
Checksum:iEEAAD0D143A0D35A
GO
Isoform 2 (identifier: Q96HD1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-420: ESAGFFSEMT...RVLEGFIKGR → GAFPILTDLT...IHSQQASSQR

Show »
Length:422
Mass (Da):45,942
Checksum:i3FC9B9BC52BE6DA1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131M → V.6 Publications
Corresponds to variant rs279552 [ dbSNP | Ensembl ].
VAR_046653
Natural varianti107 – 1071R → H in AVSD2 susceptibility; with heterotaxy syndrome. 1 Publication
Corresponds to variant rs28941780 [ dbSNP | Ensembl ].
VAR_023764
Natural varianti128 – 1281P → R.
Corresponds to variant rs2302787 [ dbSNP | Ensembl ].
VAR_046654
Natural varianti162 – 1621P → A in AVSD2 susceptibility. 1 Publication
VAR_023765
Natural varianti311 – 3111T → I in AVSD2 susceptibility. 1 Publication
Corresponds to variant rs28942092 [ dbSNP | Ensembl ].
VAR_023766
Natural varianti329 – 3291R → C in AVSD2 susceptibility. 1 Publication
Corresponds to variant rs28942091 [ dbSNP | Ensembl ].
VAR_023767

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei350 – 42071ESAGF…FIKGR → GAFPILTDLTPETTRRWKLG SHPHSTYVKMKMQRDEATFP GLYGKQVAKLGSQSRQSDRG TRLIHSQQASSQR in isoform 2. VSP_016091Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti126 – 1261E → G in CAB43376. 1 Publication
Sequence conflicti153 – 1531L → P in CAG33661. 1 Publication
Sequence conflicti186 – 1861G → S in BAG36806. 1 Publication
Sequence conflicti229 – 2291C → R in CAG33661. 1 Publication
Sequence conflicti336 – 3361Y → C in CAB43376. 1 Publication
Sequence conflicti348 – 3481I → V in BAG36806. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF452623 mRNA. Translation: AAM75206.1.
AL050275 mRNA. Translation: CAB43376.1.
AY358363 mRNA. Translation: AAQ88729.1.
AK314113 mRNA. Translation: BAG36806.1.
CR457380 mRNA. Translation: CAG33661.1.
AC018809 Genomic DNA. No translation available.
BC008720 mRNA. Translation: AAH08720.1.
CCDSiCCDS2593.1. [Q96HD1-1]
CCDS33693.1. [Q96HD1-2]
PIRiT08724.
RefSeqiNP_001026887.1. NM_001031717.3.
NP_001070883.1. NM_001077415.2.
NP_056328.2. NM_015513.4.
XP_006713391.1. XM_006713328.1. [Q96HD1-2]
UniGeneiHs.9383.

Genome annotation databases

EnsembliENST00000326434; ENSP00000321856; ENSG00000163703. [Q96HD1-2]
ENST00000383811; ENSP00000373322; ENSG00000163703. [Q96HD1-1]
ENST00000397170; ENSP00000380355; ENSG00000163703. [Q96HD1-1]
ENST00000452070; ENSP00000393643; ENSG00000163703. [Q96HD1-1]
GeneIDi78987.
KEGGihsa:78987.
UCSCiuc003buf.3. human. [Q96HD1-2]
uc003bug.3. human. [Q96HD1-1]

Polymorphism databases

DMDMi209572751.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF452623 mRNA. Translation: AAM75206.1 .
AL050275 mRNA. Translation: CAB43376.1 .
AY358363 mRNA. Translation: AAQ88729.1 .
AK314113 mRNA. Translation: BAG36806.1 .
CR457380 mRNA. Translation: CAG33661.1 .
AC018809 Genomic DNA. No translation available.
BC008720 mRNA. Translation: AAH08720.1 .
CCDSi CCDS2593.1. [Q96HD1-1 ]
CCDS33693.1. [Q96HD1-2 ]
PIRi T08724.
RefSeqi NP_001026887.1. NM_001031717.3.
NP_001070883.1. NM_001077415.2.
NP_056328.2. NM_015513.4.
XP_006713391.1. XM_006713328.1. [Q96HD1-2 ]
UniGenei Hs.9383.

3D structure databases

ProteinModelPortali Q96HD1.
SMRi Q96HD1. Positions 135-197, 281-346.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122458. 10 interactions.
IntActi Q96HD1. 10 interactions.
MINTi MINT-1375344.
STRINGi 9606.ENSP00000295982.

Polymorphism databases

DMDMi 209572751.

Proteomic databases

MaxQBi Q96HD1.
PaxDbi Q96HD1.
PRIDEi Q96HD1.

Protocols and materials databases

DNASUi 78987.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000326434 ; ENSP00000321856 ; ENSG00000163703 . [Q96HD1-2 ]
ENST00000383811 ; ENSP00000373322 ; ENSG00000163703 . [Q96HD1-1 ]
ENST00000397170 ; ENSP00000380355 ; ENSG00000163703 . [Q96HD1-1 ]
ENST00000452070 ; ENSP00000393643 ; ENSG00000163703 . [Q96HD1-1 ]
GeneIDi 78987.
KEGGi hsa:78987.
UCSCi uc003buf.3. human. [Q96HD1-2 ]
uc003bug.3. human. [Q96HD1-1 ]

Organism-specific databases

CTDi 78987.
GeneCardsi GC03P009975.
H-InvDB HIX0200522.
HGNCi HGNC:14630. CRELD1.
HPAi HPA026964.
MIMi 606217. phenotype.
607170. gene.
neXtProti NX_Q96HD1.
Orphaneti 99068. Complete atrioventricular canal - Fallot tetralogy.
99066. Complete atrioventricular canal - left heart obstruction.
99067. Complete atrioventricular canal - ventricle hypoplasia.
1330. Partial atrioventricular canal.
PharmGKBi PA26870.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315654.
HOGENOMi HOG000004778.
HOVERGENi HBG081344.
OMAi EPHPCHT.
PhylomeDBi Q96HD1.
TreeFami TF316507.

Miscellaneous databases

GeneWikii CRELD1.
GenomeRNAii 78987.
NextBioi 67556.
PROi Q96HD1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96HD1.
Bgeei Q96HD1.
CleanExi HS_CRELD1.
Genevestigatori Q96HD1.

Family and domain databases

InterProi IPR021852. DUF3456.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR002049. EGF_laminin.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view ]
Pfami PF11938. DUF3456. 2 hits.
PF07645. EGF_CA. 2 hits.
[Graphical view ]
SMARTi SM00181. EGF. 1 hit.
SM00179. EGF_CA. 1 hit.
SM00261. FU. 2 hits.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 1 hit.
PROSITEi PS00010. ASX_HYDROXYL. 1 hit.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 2 hits.
PS01187. EGF_CA. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins."
    Rupp P.A., Fouad G.T., Egelston C.A., Reifsteck C.A., Olson S.B., Knosp W.M., Glanville R.W., Thornburg K.L., Robinson S.W., Maslen C.L.
    Gene 293:47-57(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT VAL-13.
    Tissue: Fibroblast.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-13.
    Tissue: Kidney.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-13.
  4. "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] (ISOFORM 1), VARIANT VAL-13.
    Tissue: Amygdala.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-13.
  6. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 2), VARIANT VAL-13.
    Tissue: Lung.
  8. "Hyperactivity of the Ero1alpha oxidase elicits endoplasmic reticulum stress but no broad antioxidant response."
    Hansen H.G., Schmidt J.D., Soltoft C.L., Ramming T., Geertz-Hansen H.M., Christensen B., Sorensen E.S., Juncker A.S., Appenzeller-Herzog C., Ellgaard L.
    J. Biol. Chem. 287:39513-39523(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.
  9. "Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects."
    Robinson S.W., Morris C.D., Goldmuntz E., Reller M.D., Jones M.A., Steiner R.D., Maslen C.L.
    Am. J. Hum. Genet. 72:1047-1052(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AVSD2 SUSCEPTIBILITY HIS-107; ILE-311 AND CYS-329.
  10. "Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2)."
    Zatyka M., Priestley M., Ladusans E.J., Fryer A.E., Mason J., Latif F., Maher E.R.
    Clin. Genet. 67:526-528(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AVSD2 SUSCEPTIBILITY ALA-162.

Entry informationi

Entry nameiCREL1_HUMAN
AccessioniPrimary (citable) accession number: Q96HD1
Secondary accession number(s): A8MX90
, B2RAA9, Q6I9X5, Q8NFT4, Q9Y409
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: October 14, 2008
Last modified: July 9, 2014
This is version 114 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi