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Q96JK4

- HIPL1_HUMAN

UniProt

Q96JK4 - HIPL1_HUMAN

Protein

HHIP-like protein 1

Gene

HHIPL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor Source: InterPro
    2. quinone binding Source: InterPro
    3. scavenger receptor activity Source: InterPro

    GO - Biological processi

    1. carbohydrate metabolic process Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    HHIP-like protein 1
    Gene namesi
    Name:HHIPL1
    Synonyms:HHIP2, KIAA1822
    ORF Names:UNQ9245/PRO34761
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:19710. HHIPL1.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell
    2. membrane Source: InterPro

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162390893.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1919Sequence AnalysisAdd
    BLAST
    Chaini20 – 782763HHIP-like protein 1PRO_0000314962Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi181 ↔ 521PROSITE-ProRule annotation
    Disulfide bondi185 ↔ 528PROSITE-ProRule annotation
    Glycosylationi234 – 2341N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi399 ↔ 417PROSITE-ProRule annotation
    Disulfide bondi484 ↔ 584PROSITE-ProRule annotation
    Disulfide bondi700 ↔ 765PROSITE-ProRule annotation
    Disulfide bondi713 ↔ 775PROSITE-ProRule annotation
    Disulfide bondi745 ↔ 755PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ96JK4.
    PRIDEiQ96JK4.

    PTM databases

    PhosphoSiteiQ96JK4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96JK4.
    BgeeiQ96JK4.
    CleanExiHS_HHIPL1.
    GenevestigatoriQ96JK4.

    Organism-specific databases

    HPAiHPA047242.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000330601.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96JK4.
    SMRiQ96JK4. Positions 184-590, 667-778.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini673 – 776104SRCRPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the HHIP family.Curated
    Contains 1 SRCR domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG2133.
    HOGENOMiHOG000244857.
    HOVERGENiHBG107978.
    OMAiDHGSERI.
    OrthoDBiEOG7CZK54.
    PhylomeDBiQ96JK4.
    TreeFamiTF329059.

    Family and domain databases

    Gene3Di2.120.10.30. 1 hit.
    3.10.250.10. 1 hit.
    InterProiIPR011042. 6-blade_b-propeller_TolB-like.
    IPR018143. Folate_rcpt-like.
    IPR012938. Glc/Sorbosone_DH.
    IPR011041. Quinoprot_gluc/sorb_DH.
    IPR001190. SRCR.
    IPR017448. SRCR-like_dom.
    [Graphical view]
    PfamiPF03024. Folate_rec. 1 hit.
    PF07995. GSDH. 1 hit.
    PF00530. SRCR. 1 hit.
    [Graphical view]
    PRINTSiPR00258. SPERACTRCPTR.
    SMARTiSM00202. SR. 1 hit.
    [Graphical view]
    SUPFAMiSSF50952. SSF50952. 1 hit.
    SSF56487. SSF56487. 1 hit.
    PROSITEiPS00420. SRCR_1. 1 hit.
    PS50287. SRCR_2. 1 hit.
    [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

    Isoform 1 (identifier: Q96JK4-1) [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

    MARARAGALL ALWVLGAAAH PQCLDFRPPF RPTQPLRLCA QYSDFGCCDE    50
    GRDAELTRRF WALASRVDAA EWAACAGYAR DLLCQECSPY AAHLYDAEDP 100
    FTPLRTVPGL CQDYCLDMWH KCRGLFRHLS TDQELWALEG NLARFCRYLS 150
    LDDTDYCFPY LLVNKNLNSN LGHVVADAKG CLQLCLEEVA NGLRNPVAMV 200
    HARDGTHRFF VAEQVGLVWA YLPDRSRLGK PFLNISRVVL TSPWEGDERG 250
    FLGIAFHPSF QHNRRLYVYY SVGIRSSEWI RISEFRVSED DENAVDHSSE 300
    RIILEVKEPA SNHNGGQLLF GDDGYLYIFT GDGGMAGDPF GTFGNAQNKS 350
    ALLGKVLRID VDRKERGLPY GIPPDNPFVG DPAAQPEVYA LGVRNMWRCS 400
    FDRGDPSSGT GRGRLFCGDV GQNKFEEVDV VERGGNYGWR AREGFECYDR 450
    SLCANTSLND LLPIFAYPHT VGKSVTGGYV YRGCEYPNLN GLYIFGDFMS 500
    GRLMSLQENP GTGQWQYSEI CMGHGQTCEF PGLINNYYPY IISFGEDEAG 550
    ELYFMSTGEP SATAPRGVVY KIIDASRRAP PGKCQIQPAQ VKIRSRLIPF 600
    VPKEKFIPKT RSTPRPTARA PTRAPRRGRP TAAPPAPTPR PARPTQQPGS 650
    RRGGGRRRGR LNSASRAFRD GEVRLVRPAG LSSGSGRVEV FVGGRWGTVC 700
    DDSWNISGAA VVCRQLGFAY AVRAVKRAEF GQGGSLPILL DDVRCAGWER 750
    NLLECQHNGV GTHNCEHDED AGVVCSHQNP DL 782
    Length:782
    Mass (Da):86,731
    Last modified:January 15, 2008 - v2
    Checksum:i5A6170845C6F9472
    GO
    Isoform 2 (identifier: Q96JK4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         577-608: RRAPPGKCQIQPAQVKIRSRLIPFVPKEKFIP → SCKARSAMPGYVPAPSVCSSLTSQPFILQWWK
         609-782: Missing.

    Show »
    Length:608
    Mass (Da):67,881
    Checksum:i3FC5CDF759808D6B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti151 – 1511L → M in AAQ88540. (PubMed:12975309)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti692 – 6921V → A.
    Corresponds to variant rs7158073 [ dbSNP | Ensembl ].
    VAR_060163

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei577 – 60832RRAPP…EKFIP → SCKARSAMPGYVPAPSVCSS LTSQPFILQWWK in isoform 2. 2 PublicationsVSP_030455Add
    BLAST
    Alternative sequencei609 – 782174Missing in isoform 2. 2 PublicationsVSP_030456Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358173 mRNA. Translation: AAQ88540.1.
    AL160313 Genomic DNA. No translation available.
    BC132877 mRNA. Translation: AAI32878.1.
    BC136577 mRNA. Translation: AAI36578.1.
    AB058725 mRNA. Translation: BAB47451.1.
    CCDSiCCDS45162.1. [Q96JK4-1]
    CCDS9953.1. [Q96JK4-2]
    RefSeqiNP_001120730.1. NM_001127258.1. [Q96JK4-1]
    NP_115801.3. NM_032425.4. [Q96JK4-2]
    UniGeneiHs.288522.

    Genome annotation databases

    EnsembliENST00000330710; ENSP00000330601; ENSG00000182218. [Q96JK4-1]
    ENST00000357223; ENSP00000349757; ENSG00000182218. [Q96JK4-2]
    GeneIDi84439.
    KEGGihsa:84439.
    UCSCiuc001ygl.1. human. [Q96JK4-2]
    uc010avs.3. human. [Q96JK4-1]

    Polymorphism databases

    DMDMi166218135.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358173 mRNA. Translation: AAQ88540.1 .
    AL160313 Genomic DNA. No translation available.
    BC132877 mRNA. Translation: AAI32878.1 .
    BC136577 mRNA. Translation: AAI36578.1 .
    AB058725 mRNA. Translation: BAB47451.1 .
    CCDSi CCDS45162.1. [Q96JK4-1 ]
    CCDS9953.1. [Q96JK4-2 ]
    RefSeqi NP_001120730.1. NM_001127258.1. [Q96JK4-1 ]
    NP_115801.3. NM_032425.4. [Q96JK4-2 ]
    UniGenei Hs.288522.

    3D structure databases

    ProteinModelPortali Q96JK4.
    SMRi Q96JK4. Positions 184-590, 667-778.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000330601.

    PTM databases

    PhosphoSitei Q96JK4.

    Polymorphism databases

    DMDMi 166218135.

    Proteomic databases

    PaxDbi Q96JK4.
    PRIDEi Q96JK4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330710 ; ENSP00000330601 ; ENSG00000182218 . [Q96JK4-1 ]
    ENST00000357223 ; ENSP00000349757 ; ENSG00000182218 . [Q96JK4-2 ]
    GeneIDi 84439.
    KEGGi hsa:84439.
    UCSCi uc001ygl.1. human. [Q96JK4-2 ]
    uc010avs.3. human. [Q96JK4-1 ]

    Organism-specific databases

    CTDi 84439.
    GeneCardsi GC14P100111.
    H-InvDB HIX0011961.
    HIX0172357.
    HGNCi HGNC:19710. HHIPL1.
    HPAi HPA047242.
    neXtProti NX_Q96JK4.
    PharmGKBi PA162390893.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2133.
    HOGENOMi HOG000244857.
    HOVERGENi HBG107978.
    OMAi DHGSERI.
    OrthoDBi EOG7CZK54.
    PhylomeDBi Q96JK4.
    TreeFami TF329059.

    Miscellaneous databases

    GenomeRNAii 84439.
    NextBioi 74187.
    PROi Q96JK4.

    Gene expression databases

    ArrayExpressi Q96JK4.
    Bgeei Q96JK4.
    CleanExi HS_HHIPL1.
    Genevestigatori Q96JK4.

    Family and domain databases

    Gene3Di 2.120.10.30. 1 hit.
    3.10.250.10. 1 hit.
    InterProi IPR011042. 6-blade_b-propeller_TolB-like.
    IPR018143. Folate_rcpt-like.
    IPR012938. Glc/Sorbosone_DH.
    IPR011041. Quinoprot_gluc/sorb_DH.
    IPR001190. SRCR.
    IPR017448. SRCR-like_dom.
    [Graphical view ]
    Pfami PF03024. Folate_rec. 1 hit.
    PF07995. GSDH. 1 hit.
    PF00530. SRCR. 1 hit.
    [Graphical view ]
    PRINTSi PR00258. SPERACTRCPTR.
    SMARTi SM00202. SR. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50952. SSF50952. 1 hit.
    SSF56487. SSF56487. 1 hit.
    PROSITEi PS00420. SRCR_1. 1 hit.
    PS50287. SRCR_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    2. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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).
    4. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 250-782 (ISOFORM 1).
      Tissue: Brain.
    5. "Comparative genomics on HHIP family orthologs."
      Katoh Y., Katoh M.
      Int. J. Mol. Med. 17:391-395(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, NOMENCLATURE.

    Entry informationi

    Entry nameiHIPL1_HUMAN
    AccessioniPrimary (citable) accession number: Q96JK4
    Secondary accession number(s): A2RUF8, B2RN09, Q6UXX2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 90 of the entry and version 2 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 14
      Human chromosome 14: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3