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O96005

- CLPT1_HUMAN

UniProt

O96005 - CLPT1_HUMAN

Protein

Cleft lip and palate transmembrane protein 1

Gene

CLPTM1

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 98 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    May play a role in T-cell development.By similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. multicellular organismal development Source: ProtInc
    3. regulation of T cell differentiation in thymus Source: BHF-UCL

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cleft lip and palate transmembrane protein 1
    Gene namesi
    Name:CLPTM1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:2087. CLPTM1.

    Subcellular locationi

    GO - Cellular componenti

    1. external side of plasma membrane Source: BHF-UCL
    2. integral component of membrane Source: UniProtKB-KW
    3. integral component of plasma membrane Source: ProtInc
    4. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26613.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 669668Cleft lip and palate transmembrane protein 1PRO_0000245096Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Glycosylationi28 – 281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi119 – 1191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi161 – 1611N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi241 – 2411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi295 – 2951N-linked (GlcNAc...)2 Publications
    Glycosylationi413 – 4131N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Acetylation, Glycoprotein

    Proteomic databases

    MaxQBiO96005.
    PaxDbiO96005.
    PRIDEiO96005.

    PTM databases

    PhosphoSiteiO96005.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Gene expression databases

    ArrayExpressiO96005.
    BgeeiO96005.
    CleanExiHS_CLPTM1.
    GenevestigatoriO96005.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Unc93b1Q8VCW42EBI-2873194,EBI-6116986From a different organism.

    Protein-protein interaction databases

    BioGridi107619. 3 interactions.
    IntActiO96005. 5 interactions.
    MINTiMINT-3061031.
    STRINGi9606.ENSP00000336994.

    Structurei

    3D structure databases

    ProteinModelPortaliO96005.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 354353ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini376 – 39015CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini412 – 4165ExtracellularSequence Analysis
    Topological domaini438 – 47740CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini499 – 5024ExtracellularSequence Analysis
    Topological domaini524 – 669146CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei355 – 37521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei391 – 41121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei417 – 43721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei478 – 49821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei503 – 52321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CLPTM1 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG287859.
    HOGENOMiHOG000201405.
    HOVERGENiHBG057146.
    OMAiTRMESFF.
    PhylomeDBiO96005.
    TreeFamiTF318501.

    Family and domain databases

    InterProiIPR008429. CLPTM1.
    [Graphical view]
    PANTHERiPTHR21347. PTHR21347. 1 hit.
    PfamiPF05602. CLPTM1. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O96005-1) [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

    MAAAQEADGA RSAVVAAGGG SSGQVTSNGS IGRDPPAETQ PQNPPAQPAP    50
    NAWQVIKGVL FRIFIIWAIS SWFRRGPAPQ DQAGPGGAPR VASRNLFPKD 100
    TLMNLHVYIS EHEHFTDFNA TSALFWEQHD LVYGDWTSGE NSDGCYEHFA 150
    ELDIPQSVQQ NGSIYIHVYF TKSGFHPDPR QKALYRRLAT VHMSRMINKY 200
    KRRRFQKTKN LLTGETEADP EMIKRAEDYG PVEVISHWHP NITINIVDDH 250
    TPWVKGSVPP PLDQYVKFDA VSGDYYPIIY FNDYWNLQKD YYPINESLAS 300
    LPLRVSFCPL SLWRWQLYAA QSTKSPWNFL GDELYEQSDE EQDSVKVALL 350
    ETNPYLLALT IIVSIVHSVF EFLAFKNDIQ FWNSRQSLEG LSVRSVFFGV 400
    FQSFVVLLYI LDNETNFVVQ VSVFIGVLID LWKITKVMDV RLDREHRVAG 450
    IFPRLSFKDK STYIESSTKV YDDMAFRYLS WILFPLLGCY AVYSLLYLEH 500
    KGWYSWVLSM LYGFLLTFGF ITMTPQLFIN YKLKSVAHLP WRMLTYKALN 550
    TFIDDLFAFV IKMPVMYRIG CLRDDVVFFI YLYQRWIYRV DPTRVNEFGM 600
    SGEDPTAAAP VAEVPTAAGA LTPTPAPTTT TATREEASTS LPTKPTQGAS 650
    SASEPQEAPP KPAEDKKKD 669
    Length:669
    Mass (Da):76,097
    Last modified:May 1, 1999 - v1
    Checksum:i769AB9D291917339
    GO
    Isoform 2 (identifier: O96005-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-102: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:567
    Mass (Da):65,597
    Checksum:iE951ABBC450F0AF9
    GO
    Isoform 3 (identifier: O96005-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-24: MAAAQEADGARSAVVAAGGGSSGQ → MSRKAHITEK

    Note: No experimental confirmation available.

    Show »
    Length:655
    Mass (Da):75,178
    Checksum:i255557255AB11179
    GO

    Sequence cautioni

    The sequence AAH04865.1 differs from that shown. Reason: Aberrant splicing.
    The sequence AAP35926.1 differs from that shown. Reason: Aberrant splicing.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti103 – 1031M → V in BAG65291. (PubMed:14702039)Curated
    Sequence conflicti175 – 1751F → S in BAG65291. (PubMed:14702039)Curated
    Sequence conflicti327 – 3271W → R in BAH14465. (PubMed:14702039)Curated
    Sequence conflicti494 – 4941S → G in BAG52034. (PubMed:16303743)Curated
    Sequence conflicti637 – 6371A → T in BAD97273. 1 PublicationCurated

    Polymorphismi

    A chromosomal translocation involving CLPTM1 is found in a family with cleft lip and palate. However, no etiologic link with the disease is characterized. Translocation t(2;19)(q11.2;q13.3).

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti478 – 4781Y → C.1 Publication
    Corresponds to variant rs140564801 [ dbSNP | Ensembl ].
    VAR_071064

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 102102Missing in isoform 2. 1 PublicationVSP_055525Add
    BLAST
    Alternative sequencei1 – 2424MAAAQ…GSSGQ → MSRKAHITEK in isoform 3. 1 PublicationVSP_055526Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF037338 Genomic DNA. Translation: AAC97420.1.
    AF037339 mRNA. Translation: AAC98151.1.
    AK293314 mRNA. Translation: BAG56834.1.
    AK304480 mRNA. Translation: BAG65291.1.
    AK316094 mRNA. Translation: BAH14465.1.
    AK074935 mRNA. Translation: BAG52034.1.
    AK223553 mRNA. Translation: BAD97273.1.
    AC011481 Genomic DNA. No translation available.
    CH471126 Genomic DNA. Translation: EAW57314.1.
    BC004865 mRNA. Translation: AAH04865.1. Sequence problems.
    BC012359 mRNA. Translation: AAH12359.1.
    BT007262 mRNA. Translation: AAP35926.1. Sequence problems.
    CCDSiCCDS12651.1.
    RefSeqiNP_001269104.1. NM_001282175.1.
    NP_001269105.1. NM_001282176.1.
    NP_001285.1. NM_001294.3.
    UniGeneiHs.444441.

    Genome annotation databases

    EnsembliENST00000337392; ENSP00000336994; ENSG00000104853. [O96005-1]
    ENST00000541297; ENSP00000442011; ENSG00000104853. [O96005-4]
    ENST00000546079; ENSP00000443192; ENSG00000104853. [O96005-3]
    GeneIDi1209.
    KEGGihsa:1209.
    UCSCiuc002pai.3. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF037338 Genomic DNA. Translation: AAC97420.1 .
    AF037339 mRNA. Translation: AAC98151.1 .
    AK293314 mRNA. Translation: BAG56834.1 .
    AK304480 mRNA. Translation: BAG65291.1 .
    AK316094 mRNA. Translation: BAH14465.1 .
    AK074935 mRNA. Translation: BAG52034.1 .
    AK223553 mRNA. Translation: BAD97273.1 .
    AC011481 Genomic DNA. No translation available.
    CH471126 Genomic DNA. Translation: EAW57314.1 .
    BC004865 mRNA. Translation: AAH04865.1 . Sequence problems.
    BC012359 mRNA. Translation: AAH12359.1 .
    BT007262 mRNA. Translation: AAP35926.1 . Sequence problems.
    CCDSi CCDS12651.1.
    RefSeqi NP_001269104.1. NM_001282175.1.
    NP_001269105.1. NM_001282176.1.
    NP_001285.1. NM_001294.3.
    UniGenei Hs.444441.

    3D structure databases

    ProteinModelPortali O96005.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107619. 3 interactions.
    IntActi O96005. 5 interactions.
    MINTi MINT-3061031.
    STRINGi 9606.ENSP00000336994.

    PTM databases

    PhosphoSitei O96005.

    Proteomic databases

    MaxQBi O96005.
    PaxDbi O96005.
    PRIDEi O96005.

    Protocols and materials databases

    DNASUi 1209.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337392 ; ENSP00000336994 ; ENSG00000104853 . [O96005-1 ]
    ENST00000541297 ; ENSP00000442011 ; ENSG00000104853 . [O96005-4 ]
    ENST00000546079 ; ENSP00000443192 ; ENSG00000104853 . [O96005-3 ]
    GeneIDi 1209.
    KEGGi hsa:1209.
    UCSCi uc002pai.3. human.

    Organism-specific databases

    CTDi 1209.
    GeneCardsi GC19P045458.
    H-InvDB HIX0015219.
    HGNCi HGNC:2087. CLPTM1.
    MIMi 604783. gene.
    neXtProti NX_O96005.
    PharmGKBi PA26613.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287859.
    HOGENOMi HOG000201405.
    HOVERGENi HBG057146.
    OMAi TRMESFF.
    PhylomeDBi O96005.
    TreeFami TF318501.

    Miscellaneous databases

    ChiTaRSi CLPTM1. human.
    GeneWikii Cleft_lip_and_palate_transmembrane_protein_1.
    GenomeRNAii 1209.
    NextBioi 4981.
    PROi O96005.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O96005.
    Bgeei O96005.
    CleanExi HS_CLPTM1.
    Genevestigatori O96005.

    Family and domain databases

    InterProi IPR008429. CLPTM1.
    [Graphical view ]
    PANTHERi PTHR21347. PTHR21347. 1 hit.
    Pfami PF05602. CLPTM1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate."
      Yoshiura K., Machida J., Daack-Hirsch S., Patil S.R., Ashworth L.K., Hecht J.T., Murray J.C.
      Genomics 54:231-240(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION, TISSUE SPECIFICITY.
      Tissue: Craniofacial.
    2. "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), VARIANT CYS-478.
      Tissue: Thalamus and Uterus.
    3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Kidney.
    5. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. 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 1).
      Tissue: Choriocarcinoma and Melanoma.
    8. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-656 (ISOFORM 1).
    9. "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach."
      Lewandrowski U., Moebius J., Walter U., Sickmann A.
      Mol. Cell. Proteomics 5:226-233(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-295.
      Tissue: Platelet.
    10. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-295.
      Tissue: Liver.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCLPT1_HUMAN
    AccessioniPrimary (citable) accession number: O96005
    Secondary accession number(s): B3KQH2
    , B4DDS3, B4E2X9, B7Z9X9, F5H8J3, Q53ET6, Q9BSS5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2006
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 98 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 19
      Human chromosome 19: 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