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A4D161

- F221A_HUMAN

UniProt

A4D161 - F221A_HUMAN

Protein

Protein FAM221A

Gene

FAM221A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 58 (01 Oct 2014)
      Sequence version 1 (03 Apr 2007)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM221A
    Gene namesi
    Name:FAM221A
    Synonyms:C7orf46
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:27977. FAM221A.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162380501.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 298298Protein FAM221APRO_0000295139Add
    BLAST

    Proteomic databases

    MaxQBiA4D161.
    PaxDbiA4D161.
    PRIDEiA4D161.

    PTM databases

    PhosphoSiteiA4D161.

    Expressioni

    Gene expression databases

    ArrayExpressiA4D161.
    BgeeiA4D161.
    CleanExiHS_C7orf46.
    GenevestigatoriA4D161.

    Organism-specific databases

    HPAiHPA019719.
    HPA026748.
    HPA026752.

    Structurei

    3D structure databases

    ProteinModelPortaliA4D161.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FAM221 family.Curated

    Phylogenomic databases

    eggNOGiNOG45810.
    HOGENOMiHOG000007173.
    HOVERGENiHBG054942.
    InParanoidiA4D161.
    OMAiGSQPIRC.
    OrthoDBiEOG7R831V.
    PhylomeDBiA4D161.
    TreeFamiTF329392.

    Family and domain databases

    InterProiIPR026755. Fam221a/b.
    [Graphical view]
    PANTHERiPTHR31214. PTHR31214. 1 hit.
    PfamiPF14753. DUF4475. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A4D161-1) [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

    MERLTLPLGG AAAVDEYLEY RRIVGEDDGG KLFTPEEYEE YKRKVLPLRL    50
    QNRLFVSWRS PTGMDCKLVG PETLCFCTHR YKQHKTDLEA IPQQCPIDLP 100
    CQVTGCQCRA YLYVPLNGSQ PIRCRCKHFA DQHSAAPGFT CNTCSKCSGF 150
    HSCFTCACGQ PAYAHDTVVE TKQERLAQEK PVGQDIPYAA MGGLTGFSSL 200
    AEGYMRLDDS GIGVPSVEFL ESPITAVDSP FLKAFQASSS SSPETLTDVG 250
    TSSQVSSLRR PEEDDMAFFE RRYQERMKME KAAKWKGKAP LPSATKPS 298
    Length:298
    Mass (Da):33,083
    Last modified:April 3, 2007 - v1
    Checksum:iED00395F79B78288
    GO
    Isoform 2 (identifier: A4D161-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         213-248: Missing.

    Show »
    Length:262
    Mass (Da):29,359
    Checksum:iF691A7A6893D8B59
    GO
    Isoform 3 (identifier: A4D161-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         23-80: Missing.
         213-248: Missing.

    Show »
    Length:204
    Mass (Da):22,617
    Checksum:iC13F02A817A423B2
    GO

    Sequence cautioni

    The sequence AAH26000.1 differs from that shown. Reason: Frameshift at position 9.
    The sequence AAH42034.1 differs from that shown. Reason: Frameshift at position 101.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti101 – 1011C → R in AAH42034. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201Y → H.1 Publication
    Corresponds to variant rs17855785 [ dbSNP | Ensembl ].
    VAR_033215
    Natural varianti90 – 901A → T.
    Corresponds to variant rs34518648 [ dbSNP | Ensembl ].
    VAR_033216
    Natural varianti95 – 951C → R.
    Corresponds to variant rs35495590 [ dbSNP | Ensembl ].
    VAR_033217
    Natural varianti128 – 1281H → R.1 Publication
    Corresponds to variant rs17855786 [ dbSNP | Ensembl ].
    VAR_033218
    Natural varianti240 – 2401S → G.
    Corresponds to variant rs35928055 [ dbSNP | Ensembl ].
    VAR_033219

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei23 – 8058Missing in isoform 3. 1 PublicationVSP_026738Add
    BLAST
    Alternative sequencei213 – 24836Missing in isoform 2 and isoform 3. 1 PublicationVSP_026739Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CH236948 Genomic DNA. Translation: EAL24251.1.
    BC026000 mRNA. Translation: AAH26000.1. Frameshift.
    BC042034 mRNA. Translation: AAH42034.1. Frameshift.
    BC063130 mRNA. Translation: AAH63130.1.
    CCDSiCCDS47561.1. [A4D161-2]
    CCDS47562.1. [A4D161-3]
    CCDS5385.1. [A4D161-1]
    RefSeqiNP_001120836.1. NM_001127364.1. [A4D161-2]
    NP_001120837.1. NM_001127365.1. [A4D161-3]
    NP_954587.2. NM_199136.3. [A4D161-1]
    XP_006715786.1. XM_006715723.1. [A4D161-1]
    UniGeneiHs.592178.

    Genome annotation databases

    EnsembliENST00000344962; ENSP00000342576; ENSG00000188732. [A4D161-1]
    ENST00000409192; ENSP00000386927; ENSG00000188732. [A4D161-2]
    ENST00000409994; ENSP00000386631; ENSG00000188732. [A4D161-3]
    GeneIDi340277.
    KEGGihsa:340277.
    UCSCiuc003swo.4. human. [A4D161-1]
    uc003swq.4. human. [A4D161-2]
    uc003swr.4. human. [A4D161-3]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CH236948 Genomic DNA. Translation: EAL24251.1 .
    BC026000 mRNA. Translation: AAH26000.1 . Frameshift.
    BC042034 mRNA. Translation: AAH42034.1 . Frameshift.
    BC063130 mRNA. Translation: AAH63130.1 .
    CCDSi CCDS47561.1. [A4D161-2 ]
    CCDS47562.1. [A4D161-3 ]
    CCDS5385.1. [A4D161-1 ]
    RefSeqi NP_001120836.1. NM_001127364.1. [A4D161-2 ]
    NP_001120837.1. NM_001127365.1. [A4D161-3 ]
    NP_954587.2. NM_199136.3. [A4D161-1 ]
    XP_006715786.1. XM_006715723.1. [A4D161-1 ]
    UniGenei Hs.592178.

    3D structure databases

    ProteinModelPortali A4D161.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei A4D161.

    Proteomic databases

    MaxQBi A4D161.
    PaxDbi A4D161.
    PRIDEi A4D161.

    Protocols and materials databases

    DNASUi 340277.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000344962 ; ENSP00000342576 ; ENSG00000188732 . [A4D161-1 ]
    ENST00000409192 ; ENSP00000386927 ; ENSG00000188732 . [A4D161-2 ]
    ENST00000409994 ; ENSP00000386631 ; ENSG00000188732 . [A4D161-3 ]
    GeneIDi 340277.
    KEGGi hsa:340277.
    UCSCi uc003swo.4. human. [A4D161-1 ]
    uc003swq.4. human. [A4D161-2 ]
    uc003swr.4. human. [A4D161-3 ]

    Organism-specific databases

    CTDi 340277.
    GeneCardsi GC07P023720.
    HGNCi HGNC:27977. FAM221A.
    HPAi HPA019719.
    HPA026748.
    HPA026752.
    neXtProti NX_A4D161.
    PharmGKBi PA162380501.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45810.
    HOGENOMi HOG000007173.
    HOVERGENi HBG054942.
    InParanoidi A4D161.
    OMAi GSQPIRC.
    OrthoDBi EOG7R831V.
    PhylomeDBi A4D161.
    TreeFami TF329392.

    Miscellaneous databases

    GenomeRNAii 340277.
    NextBioi 97798.
    PROi A4D161.

    Gene expression databases

    ArrayExpressi A4D161.
    Bgeei A4D161.
    CleanExi HS_C7orf46.
    Genevestigatori A4D161.

    Family and domain databases

    InterProi IPR026755. Fam221a/b.
    [Graphical view ]
    PANTHERi PTHR31214. PTHR31214. 1 hit.
    Pfami PF14753. DUF4475. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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] (ISOFORMS 1; 2 AND 3), VARIANTS HIS-20 AND ARG-128.
      Tissue: Blood vessel, Brain and Lung.

    Entry informationi

    Entry nameiF221A_HUMAN
    AccessioniPrimary (citable) accession number: A4D161
    Secondary accession number(s): Q05CG4, Q4G0Q7, Q6P519
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 10, 2007
    Last sequence update: April 3, 2007
    Last modified: October 1, 2014
    This is version 58 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 7
      Human chromosome 7: 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