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Q96HD1

- CREL1_HUMAN

UniProt

Q96HD1 - CREL1_HUMAN

Protein

Cysteine-rich with EGF-like domain protein 1

Gene

CRELD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 3 (14 Oct 2008)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    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.2 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    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 – 2929Sequence AnalysisAdd
    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...)Sequence Analysis
    Disulfide bondi155 ↔ 169PROSITE-ProRule annotation
    Disulfide bondi163 ↔ 181PROSITE-ProRule annotation
    Disulfide bondi183 ↔ 192PROSITE-ProRule annotation
    Glycosylationi205 – 2051N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi309 ↔ 321PROSITE-ProRule annotation
    Disulfide bondi314 ↔ 330PROSITE-ProRule annotation
    Disulfide bondi332 ↔ 343PROSITE-ProRule annotation

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini30 – 362333ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini384 – 3841CytoplasmicSequence Analysis
    Topological domaini406 – 42015ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei363 – 38321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei385 – 40521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini153 – 19341EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Repeati208 – 25649FU 1Add
    BLAST
    Repeati268 – 31548FU 2Add
    BLAST
    Domaini305 – 34440EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

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

    Sequence similaritiesi

    Belongs to the CRELD family.Curated
    Contains 2 EGF-like domains.PROSITE-ProRule annotation
    Contains 2 FU (furin-like) repeats.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti126 – 1261E → G in CAB43376. (PubMed:11230166)Curated
    Sequence conflicti153 – 1531L → P in CAG33661. 1 PublicationCurated
    Sequence conflicti186 – 1861G → S in BAG36806. (PubMed:14702039)Curated
    Sequence conflicti229 – 2291C → R in CAG33661. 1 PublicationCurated
    Sequence conflicti336 – 3361Y → C in CAB43376. (PubMed:11230166)Curated
    Sequence conflicti348 – 3481I → V in BAG36806. (PubMed:14702039)Curated

    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. 2 PublicationsVSP_016091Add
    BLAST

    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

    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: October 1, 2014
    This is version 115 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