Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9H6L5 (F134B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FAM134B
Gene names
Name:FAM134B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length497 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Required for long-term survival of nociceptive and autonomic ganglion neurons. Ref.4

Subcellular location

Golgi apparatuscis-Golgi network membrane; Multi-pass membrane protein By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the FAM134 family.

Sequence caution

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.

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H6L5-1)

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.
Isoform 2 (identifier: Q9H6L5-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 497497Protein FAM134B
PRO_0000288466

Regions

Transmembrane96 – 11621Helical; Potential
Transmembrane119 – 13921Helical; Potential
Transmembrane209 – 22921Helical; Potential

Natural variations

Alternative sequence1 – 141141Missing in isoform 2.
VSP_025685
Alternative sequence142 – 15211RGAQLWRSLSE → MPEGEDFGPGK in isoform 2.
VSP_025686
Natural variant2161G → R Found in a patient with HSAN2B; uncertain pathological significance. Ref.5
VAR_068477
Natural variant3791Q → E.
Corresponds to variant rs34432513 [ dbSNP | Ensembl ].
VAR_032422

Experimental info

Sequence conflict3821S → G in BAB15252. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 4EEB84B941DBFCE5

FASTA49754,681
        10         20         30         40         50         60 
MASPAPPEHA EEGCPAPAAE EQAPPSPPPP QASPAERQQQ EEEAQEAGAA EGAGLQVEEA 

        70         80         90        100        110        120 
AGRAAAAVTW LLGEPVLWLG CRADELLSWK RPLRSLLGFV AANLLFWFLA LTPWRVYHLI 

       130        140        150        160        170        180 
SVMILGRVIM QIIKDMVLSR TRGAQLWRSL SESWEVINSK PDERPRLSHC IAESWMNFSI 

       190        200        210        220        230        240 
FLQEMSLFKQ QSPGKFCLLV CSVCTFFTIL GSYIPGVILS YLLLLCAFLC PLFKCNDIGQ 

       250        260        270        280        290        300 
KIYSKIKSVL LKLDFGIGEY INQKKRERSE ADKEKSHKDD SELDFSALCP KISLTVAAKE 

       310        320        330        340        350        360 
LSVSDTDVSE VSWTDNGTFN LSEGYTPQTD TSDDLDRPSE EVFSRDLSDF PSLENGMGTN 

       370        380        390        400        410        420 
DEDELSLGLP TELKRKKEQL DSGHRPSKET QSAAGLTLPL NSDQTFHLMS NLAGDVITAA 

       430        440        450        460        470        480 
VTAAIKDQLE GVQQALSQAA PIPEEDTDTE EGDDFELLDQ SELDQIESEL GLTQDQEAEA 

       490 
QQNKKSSGFL SNLLGGH 

« Hide

Isoform 2 [UniParc].

Checksum: 2133E985B91539AC
Show »

FASTA35639,317

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 80-497.
Tissue: Melanoma.
[4]"Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy."
Kurth I., Pamminger T., Hennings J.C., Soehendra D., Huebner A.K., Rotthier A., Baets J., Senderek J., Topaloglu H., Farrell S.A., Nuernberg G., Nurnberg P., De Jonghe P., Gal A., Kaether C., Timmerman V., Huebner C.A.
Nat. Genet. 41:1179-1181(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN HSAN2B.
[5]"Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort."
Davidson G.L., Murphy S.M., Polke J.M., Laura M., Salih M.A., Muntoni F., Blake J., Brandner S., Davies N., Horvath R., Price S., Donaghy M., Roberts M., Foulds N., Ramdharry G., Soler D., Lunn M.P., Manji H. expand/collapse author list , Davis M.B., Houlden H., Reilly M.M.
J. Neurol. 259:1673-1685(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-216.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001030022.1. NM_001034850.2.
NP_061873.2. NM_019000.4.
UniGeneHs.481704.

3D structure databases

ProteinModelPortalQ9H6L5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119969. 1 interaction.
IntActQ9H6L5. 1 interaction.
STRING9606.ENSP00000304642.

PTM databases

PhosphoSiteQ9H6L5.

Polymorphism databases

DMDM74733613.

Proteomic databases

PaxDbQ9H6L5.
PRIDEQ9H6L5.

Protocols and materials databases

DNASU54463.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306320; ENSP00000304642; ENSG00000154153. [Q9H6L5-1]
ENST00000399793; ENSP00000382691; ENSG00000154153. [Q9H6L5-2]
GeneID54463.
KEGGhsa:54463.
UCSCuc003jfr.3. human. [Q9H6L5-2]
uc003jfs.3. human. [Q9H6L5-1]

Organism-specific databases

CTD54463.
GeneCardsGC05M016473.
H-InvDBHIX0004766.
HGNCHGNC:25964. FAM134B.
HPAHPA026906.
MIM613114. gene.
613115. phenotype.
neXtProtNX_Q9H6L5.
Orphanet970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBPA162386188.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG87326.
HOGENOMHOG000050246.
HOVERGENHBG071073.
InParanoidQ9H6L5.
OMAAESWMNF.
PhylomeDBQ9H6L5.
TreeFamTF329111.

Gene expression databases

BgeeQ9H6L5.
CleanExHS_FAM134B.
GenevestigatorQ9H6L5.

Family and domain databases

InterProIPR003388. Reticulon.
[Graphical view]
PfamPF02453. Reticulon. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi54463.
NextBio56725.
PROQ9H6L5.
SOURCESearch...

Entry information

Entry nameF134B_HUMAN
AccessionPrimary (citable) accession number: Q9H6L5
Secondary accession number(s): Q69YN8 expand/collapse secondary AC list , Q9H6K6, Q9H764, Q9NXM8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 1, 2001
Last modified: April 16, 2014
This is version 89 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM