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Q8WUF8

- F172A_HUMAN

UniProt

Q8WUF8 - F172A_HUMAN

Protein

Protein FAM172A

Gene

FAM172A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM172A
    Gene namesi
    Name:FAM172A
    Synonyms:C5orf21
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:25365. FAM172A.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. endoplasmic reticulum Source: LIFEdb
    2. extracellular region Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162387241.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 416398Protein FAM172APRO_0000320931Add
    BLAST

    Proteomic databases

    MaxQBiQ8WUF8.
    PaxDbiQ8WUF8.
    PRIDEiQ8WUF8.

    PTM databases

    PhosphoSiteiQ8WUF8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8WUF8.
    BgeeiQ8WUF8.
    CleanExiHS_FAM172A.
    GenevestigatoriQ8WUF8.

    Organism-specific databases

    HPAiHPA012299.
    HPA045505.

    Interactioni

    Protein-protein interaction databases

    BioGridi123840. 3 interactions.
    IntActiQ8WUF8. 1 interaction.
    MINTiMINT-4722953.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WUF8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi413 – 4164Prevents secretion from ERPROSITE-ProRule annotation

    Sequence similaritiesi

    Belongs to the UPF0528 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG263064.
    HOGENOMiHOG000046503.
    HOVERGENiHBG107877.
    InParanoidiQ8WUF8.
    OMAiEEHVLYV.
    OrthoDBiEOG71K64J.
    PhylomeDBiQ8WUF8.
    TreeFamiTF315960.

    Family and domain databases

    Gene3Di3.40.50.1820. 2 hits.
    InterProiIPR029058. AB_hydrolase.
    IPR019154. Arb2_domain.
    [Graphical view]
    PfamiPF09757. Arb2. 1 hit.
    [Graphical view]
    SUPFAMiSSF53474. SSF53474. 2 hits.
    PROSITEiPS00014. ER_TARGET. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8WUF8-1) [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

    MSISLSSLIL LPIWINMAQI QQGGPDEKEK TTALKDLLSR IDLDELMKKD    50
    EPPLDFPDTL EGFEYAFNEK GQLRHIKTGE PFVFNYREDL HRWNQKRYEA 100
    LGEIITKYVY ELLEKDCNLK KVSIPVDATE SEPKSFIFMS EDALTNPQKL 150
    MVLIHGSGVV RAGQWARRLI INEDLDSGTQ IPFIKRAVAE GYGVIVLNPN 200
    ENYIEVEKPK IHVQSSSDSS DEPAEKRERK DKVSKETKKR RDFYEKYRNP 250
    QREKEMMQLY IRENGSPEEH AIYVWDHFIA QAAAENVFFV AHSYGGLAFV 300
    ELMIQREADV KNKVTAVALT DSVHNVWHQE AGKTIREWMR ENCCNWVSSS 350
    EPLDTSVESM LPDCPRVSAG TDRHELTSWK SFPSIFKFFT EASEAKTSSL 400
    KPAVTRRSHR IKHEEL 416
    Length:416
    Mass (Da):47,972
    Last modified:March 1, 2002 - v1
    Checksum:i37D05325D12FE7ED
    GO
    Isoform 2 (identifier: Q8WUF8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         263-416: ENGSPEEHAI...RSHRIKHEEL → VSEITTFLYYFLYLVYILLYVDCFVFLQEY

    Note: No experimental confirmation available.

    Show »
    Length:292
    Mass (Da):34,290
    Checksum:i4EE1DB236A41AA54
    GO
    Isoform 3 (identifier: Q8WUF8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-46: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:370
    Mass (Da):42,851
    Checksum:i7D958B1DC1AFE20C
    GO
    Isoform 4 (identifier: Q8WUF8-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-46: Missing.
         126-189: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:306
    Mass (Da):35,800
    Checksum:i085812F213DC7C45
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti236 – 2361E → V in CAB66565. (PubMed:11230166)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311S → N.
    Corresponds to variant rs17083426 [ dbSNP | Ensembl ].
    VAR_039312

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4646Missing in isoform 3 and isoform 4. 1 PublicationVSP_043313Add
    BLAST
    Alternative sequencei126 – 18964Missing in isoform 4. 1 PublicationVSP_043314Add
    BLAST
    Alternative sequencei263 – 416154ENGSP…KHEEL → VSEITTFLYYFLYLVYILLY VDCFVFLQEY in isoform 2. 1 PublicationVSP_031749Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136630 mRNA. Translation: CAB66565.1.
    AK295879 mRNA. Translation: BAG58676.1.
    AK296986 mRNA. Translation: BAG59527.1.
    AK312930 mRNA. Translation: BAG35773.1.
    AC093268 Genomic DNA. No translation available.
    AC099501 Genomic DNA. No translation available.
    AC106818 Genomic DNA. No translation available.
    AC108102 Genomic DNA. No translation available.
    AC114980 Genomic DNA. No translation available.
    AC117528 Genomic DNA. No translation available.
    CH471084 Genomic DNA. Translation: EAW96012.1.
    BC020584 mRNA. Translation: AAH20584.1.
    CCDSiCCDS4069.1. [Q8WUF8-1]
    CCDS54879.1. [Q8WUF8-4]
    CCDS54880.1. [Q8WUF8-3]
    RefSeqiNP_001156889.1. NM_001163417.1. [Q8WUF8-3]
    NP_001156890.1. NM_001163418.1. [Q8WUF8-4]
    NP_114431.2. NM_032042.5. [Q8WUF8-1]
    XP_005272161.1. XM_005272104.2. [Q8WUF8-3]
    XP_006714780.1. XM_006714717.1. [Q8WUF8-1]
    UniGeneiHs.600086.

    Genome annotation databases

    EnsembliENST00000395965; ENSP00000379294; ENSG00000113391. [Q8WUF8-1]
    ENST00000505869; ENSP00000426284; ENSG00000113391. [Q8WUF8-4]
    ENST00000509163; ENSP00000423841; ENSG00000113391. [Q8WUF8-3]
    GeneIDi83989.
    KEGGihsa:83989.
    UCSCiuc003kkm.4. human. [Q8WUF8-2]
    uc010jbd.3. human. [Q8WUF8-1]
    uc011cug.2. human. [Q8WUF8-4]

    Polymorphism databases

    DMDMi74730707.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136630 mRNA. Translation: CAB66565.1 .
    AK295879 mRNA. Translation: BAG58676.1 .
    AK296986 mRNA. Translation: BAG59527.1 .
    AK312930 mRNA. Translation: BAG35773.1 .
    AC093268 Genomic DNA. No translation available.
    AC099501 Genomic DNA. No translation available.
    AC106818 Genomic DNA. No translation available.
    AC108102 Genomic DNA. No translation available.
    AC114980 Genomic DNA. No translation available.
    AC117528 Genomic DNA. No translation available.
    CH471084 Genomic DNA. Translation: EAW96012.1 .
    BC020584 mRNA. Translation: AAH20584.1 .
    CCDSi CCDS4069.1. [Q8WUF8-1 ]
    CCDS54879.1. [Q8WUF8-4 ]
    CCDS54880.1. [Q8WUF8-3 ]
    RefSeqi NP_001156889.1. NM_001163417.1. [Q8WUF8-3 ]
    NP_001156890.1. NM_001163418.1. [Q8WUF8-4 ]
    NP_114431.2. NM_032042.5. [Q8WUF8-1 ]
    XP_005272161.1. XM_005272104.2. [Q8WUF8-3 ]
    XP_006714780.1. XM_006714717.1. [Q8WUF8-1 ]
    UniGenei Hs.600086.

    3D structure databases

    ProteinModelPortali Q8WUF8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123840. 3 interactions.
    IntActi Q8WUF8. 1 interaction.
    MINTi MINT-4722953.

    PTM databases

    PhosphoSitei Q8WUF8.

    Polymorphism databases

    DMDMi 74730707.

    Proteomic databases

    MaxQBi Q8WUF8.
    PaxDbi Q8WUF8.
    PRIDEi Q8WUF8.

    Protocols and materials databases

    DNASUi 83989.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000395965 ; ENSP00000379294 ; ENSG00000113391 . [Q8WUF8-1 ]
    ENST00000505869 ; ENSP00000426284 ; ENSG00000113391 . [Q8WUF8-4 ]
    ENST00000509163 ; ENSP00000423841 ; ENSG00000113391 . [Q8WUF8-3 ]
    GeneIDi 83989.
    KEGGi hsa:83989.
    UCSCi uc003kkm.4. human. [Q8WUF8-2 ]
    uc010jbd.3. human. [Q8WUF8-1 ]
    uc011cug.2. human. [Q8WUF8-4 ]

    Organism-specific databases

    CTDi 83989.
    GeneCardsi GC05M092981.
    HGNCi HGNC:25365. FAM172A.
    HPAi HPA012299.
    HPA045505.
    neXtProti NX_Q8WUF8.
    PharmGKBi PA162387241.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG263064.
    HOGENOMi HOG000046503.
    HOVERGENi HBG107877.
    InParanoidi Q8WUF8.
    OMAi EEHVLYV.
    OrthoDBi EOG71K64J.
    PhylomeDBi Q8WUF8.
    TreeFami TF315960.

    Miscellaneous databases

    ChiTaRSi FAM172A. human.
    GeneWikii C5orf21.
    GenomeRNAii 83989.
    NextBioi 73144.
    PROi Q8WUF8.

    Gene expression databases

    ArrayExpressi Q8WUF8.
    Bgeei Q8WUF8.
    CleanExi HS_FAM172A.
    Genevestigatori Q8WUF8.

    Family and domain databases

    Gene3Di 3.40.50.1820. 2 hits.
    InterProi IPR029058. AB_hydrolase.
    IPR019154. Arb2_domain.
    [Graphical view ]
    Pfami PF09757. Arb2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53474. SSF53474. 2 hits.
    PROSITEi PS00014. ER_TARGET. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    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 1; 3 AND 4).
      Tissue: Hippocampus, Placenta and Tongue.
    3. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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: Duodenum.

    Entry informationi

    Entry nameiF172A_HUMAN
    AccessioniPrimary (citable) accession number: Q8WUF8
    Secondary accession number(s): B2R7C6
    , B4DJ14, B4DLG5, Q9H0U8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 94 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 5
      Human chromosome 5: 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
    5. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3