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Q8WUF8

- F172A_HUMAN

UniProt

Q8WUF8 - F172A_HUMAN

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Protein

Protein FAM172A

Gene

FAM172A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

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-KW
Complete GO annotation...

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

BgeeiQ8WUF8.
CleanExiHS_FAM172A.
ExpressionAtlasiQ8WUF8. baseline and differential.
GenevestigatoriQ8WUF8.

Organism-specific databases

HPAiHPA012299.
HPA045505.

Interactioni

Protein-protein interaction databases

BioGridi123840. 4 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.
GeneTreeiENSGT00530000063907.
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

        10         20         30         40         50
MSISLSSLIL LPIWINMAQI QQGGPDEKEK TTALKDLLSR IDLDELMKKD
60 70 80 90 100
EPPLDFPDTL EGFEYAFNEK GQLRHIKTGE PFVFNYREDL HRWNQKRYEA
110 120 130 140 150
LGEIITKYVY ELLEKDCNLK KVSIPVDATE SEPKSFIFMS EDALTNPQKL
160 170 180 190 200
MVLIHGSGVV RAGQWARRLI INEDLDSGTQ IPFIKRAVAE GYGVIVLNPN
210 220 230 240 250
ENYIEVEKPK IHVQSSSDSS DEPAEKRERK DKVSKETKKR RDFYEKYRNP
260 270 280 290 300
QREKEMMQLY IRENGSPEEH AIYVWDHFIA QAAAENVFFV AHSYGGLAFV
310 320 330 340 350
ELMIQREADV KNKVTAVALT DSVHNVWHQE AGKTIREWMR ENCCNWVSSS
360 370 380 390 400
EPLDTSVESM LPDCPRVSAG TDRHELTSWK SFPSIFKFFT EASEAKTSSL
410
KPAVTRRSHR IKHEEL
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. 4 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.
GeneTreei ENSGT00530000063907.
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

Bgeei Q8WUF8.
CleanExi HS_FAM172A.
ExpressionAtlasi Q8WUF8. baseline and differential.
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 29, 2014
This is version 95 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