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Q9NQ48

- LZTL1_HUMAN

UniProt

Q9NQ48 - LZTL1_HUMAN

Protein

Leucine zipper transcription factor-like protein 1

Gene

LZTFL1

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 95 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function.3 Publications

    GO - Molecular functioni

    1. identical protein binding Source: IntAct
    2. protein binding Source: IntAct

    GO - Biological processi

    1. establishment of protein localization to organelle Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Leucine zipper transcription factor-like protein 1
    Gene namesi
    Name:LZTFL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:6741. LZTFL1.

    Subcellular locationi

    Cytoplasm 2 Publications

    GO - Cellular componenti

    1. BBSome Source: UniProtKB
    2. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Bardet-Biedl syndrome 17 (BBS17) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry. Patients carrying LZTFL1 mutations manifest mesoaxial polydactyly, a clinical feature very uncommon for Bardet-Biedl syndrome (PubMed:22510444 and PubMed:23692385). Some patients manifest situs inversus (PubMed:22510444).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti87 – 871L → P in BBS17. 1 Publication
    VAR_070104

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi24 – 252KR → AS: Increases BBS4, BBS8 and BBS9 ciliary localization. 1 Publication

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    PharmGKBiPA30505.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 299299Leucine zipper transcription factor-like protein 1PRO_0000318757Add
    BLAST

    Proteomic databases

    MaxQBiQ9NQ48.
    PaxDbiQ9NQ48.
    PRIDEiQ9NQ48.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00478250.

    PTM databases

    PhosphoSiteiQ9NQ48.

    Expressioni

    Tissue specificityi

    Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal muscle, thymus, spleen, small intestine, and peripheral blood leukocytes.2 Publications

    Developmental stagei

    Expressed in brain, lung, liver, and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ9NQ48.
    BgeeiQ9NQ48.
    CleanExiHS_LZTFL1.
    GenevestigatoriQ9NQ48.

    Organism-specific databases

    HPAiHPA043466.
    HPA048447.

    Interactioni

    Subunit structurei

    Self-associates. Interacts with BBS9; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself3EBI-2824799,EBI-2824799
    BBS9Q3SYG46EBI-2824799,EBI-2826852

    Protein-protein interaction databases

    BioGridi120062. 8 interactions.
    IntActiQ9NQ48. 5 interactions.
    STRINGi9606.ENSP00000296135.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQ48.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni145 – 299155Interaction with BSS9Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili96 – 296201Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the LZTFL1 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG68368.
    HOGENOMiHOG000067838.
    HOVERGENiHBG054284.
    InParanoidiQ9NQ48.
    OMAiGFNEHHQ.
    OrthoDBiEOG7ZWD2H.
    PhylomeDBiQ9NQ48.
    TreeFamiTF329023.

    Family and domain databases

    InterProiIPR026157. LZTFL1.
    [Graphical view]
    PANTHERiPTHR21635. PTHR21635. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NQ48-1) [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

    MAELGLNEHH QNEVINYMRF ARSKRGLRLK TVDSCFQDLK ESRLVEDTFT    50
    IDEVSEVLNG LQAVVHSEVE SELINTAYTN VLLLRQLFAQ AEKWYLKLQT 100
    DISELENREL LEQVAEFEKA EITSSNKKPI LDVTKPKLAP LNEGGTAELL 150
    NKEILRLQEE NEKLKSRLKT IEIQATNALD EKSKLEKALQ DLQLDQGNQK 200
    DFIKAQDLSN LENTVAALKS EFQKTLNDKT ENQKSLEENL ATAKHDLLRV 250
    QEQLHMAEKE LEKKFQQTAA YRNMKEILTK KNDQIKDLRK RLAQYEPED 299
    Length:299
    Mass (Da):34,592
    Last modified:October 1, 2000 - v1
    Checksum:iDCCD59AB98ED2C8A
    GO
    Isoform 2 (identifier: Q9NQ48-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: Missing.

    Show »
    Length:282
    Mass (Da):32,599
    Checksum:i93484845102E01AB
    GO
    Isoform 3 (identifier: Q9NQ48-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-43: MAELGLNEHH...SCFQDLKESR → MRNQDPGKMG...SWAKFQEKAL
         260-299: ELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED → I

    Show »
    Length:256
    Mass (Da):29,332
    Checksum:i6A4C0DBFF9E07403
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti108 – 1081R → Q in AAH25988. (PubMed:15489334)Curated
    Sequence conflicti224 – 2241K → R in BAG64469. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti87 – 871L → P in BBS17. 1 Publication
    VAR_070104
    Natural varianti152 – 1521K → E.1 Publication
    Corresponds to variant rs17855512 [ dbSNP | Ensembl ].
    VAR_038877
    Natural varianti246 – 2461D → N.1 Publication
    Corresponds to variant rs1129183 [ dbSNP | Ensembl ].
    VAR_038878
    Natural varianti251 – 2511Q → R.1 Publication
    Corresponds to variant rs17852322 [ dbSNP | Ensembl ].
    VAR_038879

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4343MAELG…LKESR → MRNQDPGKMGRQRKSIKLYP THPLVTFPRSWAKFQEKAL in isoform 3. 1 PublicationVSP_053428Add
    BLAST
    Alternative sequencei1 – 1717Missing in isoform 2. 1 PublicationVSP_053429Add
    BLAST
    Alternative sequencei260 – 29940ELEKK…YEPED → I in isoform 3. 1 PublicationVSP_053430Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ289880 Genomic DNA. Translation: CAB96873.1.
    AJ297351 mRNA. Translation: CAB95836.1.
    BX640604 mRNA. Translation: CAE45710.1.
    AK093705 mRNA. Translation: BAG52751.1.
    AK303416 mRNA. Translation: BAG64469.1.
    AC098476 Genomic DNA. No translation available.
    AC099782 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64749.1.
    CH471055 Genomic DNA. Translation: EAW64750.1.
    BC025988 mRNA. Translation: AAH25988.1.
    BC042483 mRNA. Translation: AAH42483.1.
    CCDSiCCDS2731.1. [Q9NQ48-1]
    CCDS63608.1. [Q9NQ48-2]
    CCDS63609.1. [Q9NQ48-3]
    RefSeqiNP_001263307.1. NM_001276378.1. [Q9NQ48-2]
    NP_001263308.1. NM_001276379.1. [Q9NQ48-3]
    NP_065080.1. NM_020347.3. [Q9NQ48-1]
    UniGeneiHs.30824.

    Genome annotation databases

    EnsembliENST00000296135; ENSP00000296135; ENSG00000163818. [Q9NQ48-1]
    ENST00000536047; ENSP00000439522; ENSG00000163818. [Q9NQ48-2]
    ENST00000539217; ENSP00000441784; ENSG00000163818. [Q9NQ48-3]
    GeneIDi54585.
    KEGGihsa:54585.
    UCSCiuc003cox.2. human. [Q9NQ48-1]

    Polymorphism databases

    DMDMi74734310.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ289880 Genomic DNA. Translation: CAB96873.1 .
    AJ297351 mRNA. Translation: CAB95836.1 .
    BX640604 mRNA. Translation: CAE45710.1 .
    AK093705 mRNA. Translation: BAG52751.1 .
    AK303416 mRNA. Translation: BAG64469.1 .
    AC098476 Genomic DNA. No translation available.
    AC099782 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64749.1 .
    CH471055 Genomic DNA. Translation: EAW64750.1 .
    BC025988 mRNA. Translation: AAH25988.1 .
    BC042483 mRNA. Translation: AAH42483.1 .
    CCDSi CCDS2731.1. [Q9NQ48-1 ]
    CCDS63608.1. [Q9NQ48-2 ]
    CCDS63609.1. [Q9NQ48-3 ]
    RefSeqi NP_001263307.1. NM_001276378.1. [Q9NQ48-2 ]
    NP_001263308.1. NM_001276379.1. [Q9NQ48-3 ]
    NP_065080.1. NM_020347.3. [Q9NQ48-1 ]
    UniGenei Hs.30824.

    3D structure databases

    ProteinModelPortali Q9NQ48.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120062. 8 interactions.
    IntActi Q9NQ48. 5 interactions.
    STRINGi 9606.ENSP00000296135.

    PTM databases

    PhosphoSitei Q9NQ48.

    Polymorphism databases

    DMDMi 74734310.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00478250.

    Proteomic databases

    MaxQBi Q9NQ48.
    PaxDbi Q9NQ48.
    PRIDEi Q9NQ48.

    Protocols and materials databases

    DNASUi 54585.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296135 ; ENSP00000296135 ; ENSG00000163818 . [Q9NQ48-1 ]
    ENST00000536047 ; ENSP00000439522 ; ENSG00000163818 . [Q9NQ48-2 ]
    ENST00000539217 ; ENSP00000441784 ; ENSG00000163818 . [Q9NQ48-3 ]
    GeneIDi 54585.
    KEGGi hsa:54585.
    UCSCi uc003cox.2. human. [Q9NQ48-1 ]

    Organism-specific databases

    CTDi 54585.
    GeneCardsi GC03M045840.
    H-InvDB HIX0003243.
    HGNCi HGNC:6741. LZTFL1.
    HPAi HPA043466.
    HPA048447.
    MIMi 209900. phenotype.
    606568. gene.
    neXtProti NX_Q9NQ48.
    Orphaneti 110. Bardet-Biedl syndrome.
    PharmGKBi PA30505.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG68368.
    HOGENOMi HOG000067838.
    HOVERGENi HBG054284.
    InParanoidi Q9NQ48.
    OMAi GFNEHHQ.
    OrthoDBi EOG7ZWD2H.
    PhylomeDBi Q9NQ48.
    TreeFami TF329023.

    Miscellaneous databases

    GenomeRNAii 54585.
    NextBioi 35469723.
    PROi Q9NQ48.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQ48.
    Bgeei Q9NQ48.
    CleanExi HS_LZTFL1.
    Genevestigatori Q9NQ48.

    Family and domain databases

    InterProi IPR026157. LZTFL1.
    [Graphical view ]
    PANTHERi PTHR21635. PTHR21635. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3."
      Kiss H., Kedra D., Kiss C., Kost-Alimova M., Yang Y., Klein G., Imreh S., Dumanski J.P.
      Genomics 73:10-19(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT ASN-246.
      Tissue: Testis.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Endometrial adenocarcinoma.
    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 2 AND 3).
    4. "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].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 1), VARIANTS GLU-152 AND ARG-251.
      Tissue: Testis.
    7. "Tumor-suppressive functions of leucine zipper transcription factor-like 1."
      Wei Q., Zhou W., Wang W., Gao B., Wang L., Cao J., Liu Z.P.
      Cancer Res. 70:2942-2950(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS TUMOR SUPPRESSOR, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
      Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
      PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SELF-ASSOCIATION, INTERACTION WITH BBS9, ASSOCIATION WITH THE BBSOME COMPLEX, SUBCELLULAR LOCATION, MUTAGENESIS OF 24-LYS-ARG-25.
    10. "Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly."
      Marion V., Stutzmann F., Gerard M., De Melo C., Schaefer E., Claussmann A., Helle S., Delague V., Souied E., Barrey C., Verloes A., Stoetzel C., Dollfus H.
      J. Med. Genet. 49:317-321(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN SONIC HEDGEHOG PATHWAY, INVOLVEMENT IN BBS17.
    11. "Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations."
      Schaefer E., Lauer J., Durand M., Pelletier V., Obringer C., Claussmann A., Braun J.J., Redin C., Mathis C., Muller J., Schmidt-Mutter C., Flori E., Marion V., Stoetzel C., Dollfus H.
      Clin. Genet. 85:476-481(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BBS17 PRO-87.

    Entry informationi

    Entry nameiLZTL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQ48
    Secondary accession number(s): B3KSI9
    , B4E0K7, Q8TC61, Q9NQ56
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 95 of the entry and version 1 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