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Q9H6L5

- F134B_HUMAN

UniProt

Q9H6L5 - F134B_HUMAN

Protein

Protein FAM134B

Gene

FAM134B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Required for long-term survival of nociceptive and autonomic ganglion neurons.1 Publication

    GO - Biological processi

    1. sensory perception of pain Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM134B
    Gene namesi
    Name:FAM134B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:25964. FAM134B.

    Subcellular locationi

    GO - Cellular componenti

    1. cis-Golgi network Source: UniProtKB
    2. Golgi apparatus Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Neuropathy, hereditary sensory and autonomic, 2B (HSAN2B) [MIM:613115]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti216 – 2161G → R Found in a patient with HSAN2B; uncertain pathological significance. 1 Publication
    VAR_068477

    Keywords - Diseasei

    Neuropathy

    Organism-specific databases

    MIMi613115. phenotype.
    Orphaneti970. Hereditary sensory and autonomic neuropathy type 2.
    PharmGKBiPA162386188.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 497497Protein FAM134BPRO_0000288466Add
    BLAST

    Proteomic databases

    MaxQBiQ9H6L5.
    PaxDbiQ9H6L5.
    PRIDEiQ9H6L5.

    PTM databases

    PhosphoSiteiQ9H6L5.

    Expressioni

    Gene expression databases

    BgeeiQ9H6L5.
    CleanExiHS_FAM134B.
    GenevestigatoriQ9H6L5.

    Organism-specific databases

    HPAiHPA026906.

    Interactioni

    Protein-protein interaction databases

    BioGridi119969. 1 interaction.
    IntActiQ9H6L5. 1 interaction.
    STRINGi9606.ENSP00000304642.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H6L5.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei96 – 11621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei119 – 13921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei209 – 22921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FAM134 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG87326.
    HOGENOMiHOG000050246.
    HOVERGENiHBG071073.
    InParanoidiQ9H6L5.
    OMAiAESWMNF.
    PhylomeDBiQ9H6L5.
    TreeFamiTF329111.

    Family and domain databases

    InterProiIPR003388. Reticulon.
    [Graphical view]
    PfamiPF02453. Reticulon. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H6L5-1) [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

    MASPAPPEHA EEGCPAPAAE EQAPPSPPPP QASPAERQQQ EEEAQEAGAA    50
    EGAGLQVEEA AGRAAAAVTW LLGEPVLWLG CRADELLSWK RPLRSLLGFV 100
    AANLLFWFLA LTPWRVYHLI SVMILGRVIM QIIKDMVLSR TRGAQLWRSL 150
    SESWEVINSK PDERPRLSHC IAESWMNFSI FLQEMSLFKQ QSPGKFCLLV 200
    CSVCTFFTIL GSYIPGVILS YLLLLCAFLC PLFKCNDIGQ KIYSKIKSVL 250
    LKLDFGIGEY INQKKRERSE ADKEKSHKDD SELDFSALCP KISLTVAAKE 300
    LSVSDTDVSE VSWTDNGTFN LSEGYTPQTD TSDDLDRPSE EVFSRDLSDF 350
    PSLENGMGTN DEDELSLGLP TELKRKKEQL DSGHRPSKET QSAAGLTLPL 400
    NSDQTFHLMS NLAGDVITAA VTAAIKDQLE GVQQALSQAA PIPEEDTDTE 450
    EGDDFELLDQ SELDQIESEL GLTQDQEAEA QQNKKSSGFL SNLLGGH 497
    Length:497
    Mass (Da):54,681
    Last modified:March 1, 2001 - v1
    Checksum:i4EEB84B941DBFCE5
    GO
    Isoform 2 (identifier: Q9H6L5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-141: Missing.
         142-152: RGAQLWRSLSE → MPEGEDFGPGK

    Show »
    Length:356
    Mass (Da):39,317
    Checksum:i2133E985B91539AC
    GO

    Sequence cautioni

    The sequence AAH30517.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA90982.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB15252.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti382 – 3821S → G in BAB15252. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti216 – 2161G → R Found in a patient with HSAN2B; uncertain pathological significance. 1 Publication
    VAR_068477
    Natural varianti379 – 3791Q → E.
    Corresponds to variant rs34432513 [ dbSNP | Ensembl ].
    VAR_032422

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 141141Missing in isoform 2. 2 PublicationsVSP_025685Add
    BLAST
    Alternative sequencei142 – 15211RGAQLWRSLSE → MPEGEDFGPGK in isoform 2. 2 PublicationsVSP_025686Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000159 mRNA. Translation: BAA90982.1. Different initiation.
    AK024920 mRNA. Translation: BAB15034.1.
    AK025808 mRNA. Translation: BAB15241.1.
    AK025832 mRNA. Translation: BAB15252.1. Different initiation.
    BC030517 mRNA. Translation: AAH30517.1. Different initiation.
    BC053326 mRNA. Translation: AAH53326.1.
    BC073132 mRNA. Translation: AAH73132.1.
    AL832438 mRNA. Translation: CAH10610.1.
    CCDSiCCDS43304.1. [Q9H6L5-1]
    CCDS43305.1. [Q9H6L5-2]
    RefSeqiNP_001030022.1. NM_001034850.2. [Q9H6L5-1]
    NP_061873.2. NM_019000.4. [Q9H6L5-2]
    UniGeneiHs.481704.

    Genome annotation databases

    EnsembliENST00000306320; ENSP00000304642; ENSG00000154153. [Q9H6L5-1]
    ENST00000399793; ENSP00000382691; ENSG00000154153. [Q9H6L5-2]
    GeneIDi54463.
    KEGGihsa:54463.
    UCSCiuc003jfr.3. human. [Q9H6L5-2]
    uc003jfs.3. human. [Q9H6L5-1]

    Polymorphism databases

    DMDMi74733613.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000159 mRNA. Translation: BAA90982.1 . Different initiation.
    AK024920 mRNA. Translation: BAB15034.1 .
    AK025808 mRNA. Translation: BAB15241.1 .
    AK025832 mRNA. Translation: BAB15252.1 . Different initiation.
    BC030517 mRNA. Translation: AAH30517.1 . Different initiation.
    BC053326 mRNA. Translation: AAH53326.1 .
    BC073132 mRNA. Translation: AAH73132.1 .
    AL832438 mRNA. Translation: CAH10610.1 .
    CCDSi CCDS43304.1. [Q9H6L5-1 ]
    CCDS43305.1. [Q9H6L5-2 ]
    RefSeqi NP_001030022.1. NM_001034850.2. [Q9H6L5-1 ]
    NP_061873.2. NM_019000.4. [Q9H6L5-2 ]
    UniGenei Hs.481704.

    3D structure databases

    ProteinModelPortali Q9H6L5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119969. 1 interaction.
    IntActi Q9H6L5. 1 interaction.
    STRINGi 9606.ENSP00000304642.

    PTM databases

    PhosphoSitei Q9H6L5.

    Polymorphism databases

    DMDMi 74733613.

    Proteomic databases

    MaxQBi Q9H6L5.
    PaxDbi Q9H6L5.
    PRIDEi Q9H6L5.

    Protocols and materials databases

    DNASUi 54463.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000306320 ; ENSP00000304642 ; ENSG00000154153 . [Q9H6L5-1 ]
    ENST00000399793 ; ENSP00000382691 ; ENSG00000154153 . [Q9H6L5-2 ]
    GeneIDi 54463.
    KEGGi hsa:54463.
    UCSCi uc003jfr.3. human. [Q9H6L5-2 ]
    uc003jfs.3. human. [Q9H6L5-1 ]

    Organism-specific databases

    CTDi 54463.
    GeneCardsi GC05M016473.
    GeneReviewsi FAM134B.
    H-InvDB HIX0004766.
    HGNCi HGNC:25964. FAM134B.
    HPAi HPA026906.
    MIMi 613114. gene.
    613115. phenotype.
    neXtProti NX_Q9H6L5.
    Orphaneti 970. Hereditary sensory and autonomic neuropathy type 2.
    PharmGKBi PA162386188.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG87326.
    HOGENOMi HOG000050246.
    HOVERGENi HBG071073.
    InParanoidi Q9H6L5.
    OMAi AESWMNF.
    PhylomeDBi Q9H6L5.
    TreeFami TF329111.

    Miscellaneous databases

    GenomeRNAii 54463.
    NextBioi 56725.
    PROi Q9H6L5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H6L5.
    CleanExi HS_FAM134B.
    Genevestigatori Q9H6L5.

    Family and domain databases

    InterProi IPR003388. Reticulon.
    [Graphical view ]
    Pfami PF02453. Reticulon. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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 AND 2).
      Tissue: Colon.
    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 AND 2).
      Tissue: Colon and Lung.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 80-497.
      Tissue: Melanoma.
    4. Cited for: FUNCTION, INVOLVEMENT IN HSAN2B.
    5. Cited for: VARIANT ARG-216.

    Entry informationi

    Entry nameiF134B_HUMAN
    AccessioniPrimary (citable) accession number: Q9H6L5
    Secondary accession number(s): Q69YN8
    , Q9H6K6, Q9H764, Q9NXM8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 92 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. 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