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Protein

Protein FAM124B

Gene

FAM124B

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM124B
Gene namesi
Name:FAM124B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26224. FAM124B.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162385815.

Polymorphism and mutation databases

BioMutaiFAM124B.
DMDMi221222523.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 455455Protein FAM124BPRO_0000286384Add
BLAST

Proteomic databases

PaxDbiQ9H5Z6.
PRIDEiQ9H5Z6.

PTM databases

iPTMnetiQ9H5Z6.
PhosphoSiteiQ9H5Z6.

Expressioni

Gene expression databases

BgeeiQ9H5Z6.
CleanExiHS_FAM124B.
GenevisibleiQ9H5Z6. HS.

Organism-specific databases

HPAiHPA050823.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-741626,EBI-10173507
AESQ081173EBI-741626,EBI-717810
BIRC7Q96CA53EBI-741626,EBI-517623
CARD9Q9H2573EBI-741626,EBI-751319
GOLGA2Q083793EBI-741626,EBI-618309
KCTD6Q8NC693EBI-741626,EBI-2511344
KCTD9Q7L2733EBI-741626,EBI-4397613
KIAA1958Q8N8K93EBI-741626,EBI-10181113
KRT19P087273EBI-741626,EBI-742756
KRT31Q153233EBI-741626,EBI-948001
KRT40Q6A1623EBI-741626,EBI-10171697
KRTAP10-7P604093EBI-741626,EBI-10172290
KRTAP10-9P604113EBI-741626,EBI-10172052
KRTAP5-9P263713EBI-741626,EBI-3958099
LZTS2Q9BRK43EBI-741626,EBI-741037
MDFIQ997504EBI-741626,EBI-724076
MKRN3Q130643EBI-741626,EBI-2340269
NOTCH2NLQ7Z3S93EBI-741626,EBI-945833
RBPMSQ930623EBI-741626,EBI-740322
RINT1Q6NUQ13EBI-741626,EBI-726876
SSX2IPQ9Y2D83EBI-741626,EBI-2212028
TCF4P158843EBI-741626,EBI-533224
TRIM54Q9BYV23EBI-741626,EBI-2130429
USHBP1Q8N6Y03EBI-741626,EBI-739895

Protein-protein interaction databases

BioGridi122934. 29 interactions.
IntActiQ9H5Z6. 28 interactions.
MINTiMINT-1443571.
STRINGi9606.ENSP00000386895.

Structurei

3D structure databases

ProteinModelPortaliQ9H5Z6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM124 family.Curated

Phylogenomic databases

eggNOGiENOG410IIF9. Eukaryota.
ENOG410YA6D. LUCA.
GeneTreeiENSGT00590000083134.
HOGENOMiHOG000112435.
HOVERGENiHBG107864.
InParanoidiQ9H5Z6.
OMAiRWCHHSS.
OrthoDBiEOG7T1RBN.
PhylomeDBiQ9H5Z6.
TreeFamiTF328699.

Family and domain databases

InterProiIPR029380. FAM124.
[Graphical view]
PfamiPF15067. FAM124. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H5Z6-1) [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
MDETQGPLAM TVHLLANSGH GSLLQRTLDQ LLDCICPEVR LFQVSERASP
60 70 80 90 100
VKYCEKSHSK RSRFPGMSVL LFLHESPGED RLFRVLDSLQ HSPWQCYPTQ
110 120 130 140 150
DTRGRLCPYF FANQEFYSLD SQLPIWGVRQ VHCGSEILRV TLYCSFDNYE
160 170 180 190 200
DAIRLYEMIL QREATLQKSN FCFFVLYASK SFALQLSLKQ LPPGMSVDPK
210 220 230 240 250
ESSVLQFKVQ EIGQLVPLLP NPCMPISSTR WQTQDYDGNK ILLQVQLNPE
260 270 280 290 300
LGVKNGILGA GMLPLGSRLT SVSAKRTSEP RSQRNQGKRS QGHSLELPEP
310 320 330 340 350
SGSPTSDRCA GTSWKSPGRS FQVSSPAMGA HLHLSSHHLE SGARMKVLNR
360 370 380 390 400
ENSFQKLEAE TNVDTGLTII NSEPRQTYFG GFPRDLQTSQ PPFCLPASSL
410 420 430 440 450
GVATSKNNSV LKERVSPLPL AGQRDLGTRK TISECLLHLQ VQGEEKEEDE

EEFFI
Length:455
Mass (Da):50,961
Last modified:January 20, 2009 - v3
Checksum:i730A6BE5893E6DE5
GO
Isoform 2 (identifier: Q9H5Z6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     245-272: VQLNPELGVKNGILGAGMLPLGSRLTSV → RWESSSVAQTRVRWCHHSSLRSSPSGFK
     273-455: Missing.

Show »
Length:272
Mass (Da):31,276
Checksum:i864E9B9C2C007413
GO

Sequence cautioni

The sequence BAB15471.1 differs from that shown. Reason: Frameshift at position 264. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti62 – 643SRF → YRL in BAB15471 (PubMed:14702039).Curated
Sequence conflicti264 – 2641P → S in BAB15471 (PubMed:14702039).Curated
Sequence conflicti429 – 4291R → G in BAB15471 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti257 – 2571I → T.
Corresponds to variant rs3738954 [ dbSNP | Ensembl ].
VAR_060151

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei245 – 27228VQLNP…RLTSV → RWESSSVAQTRVRWCHHSSL RSSPSGFK in isoform 2. 2 PublicationsVSP_025042Add
BLAST
Alternative sequencei273 – 455183Missing in isoform 2. 2 PublicationsVSP_025043Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026399 mRNA. Translation: BAB15471.1. Frameshift.
AK075126 mRNA. No translation available.
AC008072 Genomic DNA. Translation: AAY14842.1.
CH471063 Genomic DNA. Translation: EAW70827.1.
BC025754 mRNA. Translation: AAH25754.1.
CCDSiCCDS2461.1. [Q9H5Z6-2]
CCDS46527.1. [Q9H5Z6-1]
RefSeqiNP_001116251.1. NM_001122779.1. [Q9H5Z6-1]
NP_079061.2. NM_024785.2. [Q9H5Z6-2]
UniGeneiHs.147585.

Genome annotation databases

EnsembliENST00000243806; ENSP00000243806; ENSG00000124019. [Q9H5Z6-2]
ENST00000389874; ENSP00000374524; ENSG00000124019. [Q9H5Z6-2]
ENST00000409685; ENSP00000386895; ENSG00000124019. [Q9H5Z6-1]
GeneIDi79843.
KEGGihsa:79843.
UCSCiuc002vnw.3. human. [Q9H5Z6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026399 mRNA. Translation: BAB15471.1. Frameshift.
AK075126 mRNA. No translation available.
AC008072 Genomic DNA. Translation: AAY14842.1.
CH471063 Genomic DNA. Translation: EAW70827.1.
BC025754 mRNA. Translation: AAH25754.1.
CCDSiCCDS2461.1. [Q9H5Z6-2]
CCDS46527.1. [Q9H5Z6-1]
RefSeqiNP_001116251.1. NM_001122779.1. [Q9H5Z6-1]
NP_079061.2. NM_024785.2. [Q9H5Z6-2]
UniGeneiHs.147585.

3D structure databases

ProteinModelPortaliQ9H5Z6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122934. 29 interactions.
IntActiQ9H5Z6. 28 interactions.
MINTiMINT-1443571.
STRINGi9606.ENSP00000386895.

PTM databases

iPTMnetiQ9H5Z6.
PhosphoSiteiQ9H5Z6.

Polymorphism and mutation databases

BioMutaiFAM124B.
DMDMi221222523.

Proteomic databases

PaxDbiQ9H5Z6.
PRIDEiQ9H5Z6.

Protocols and materials databases

DNASUi79843.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243806; ENSP00000243806; ENSG00000124019. [Q9H5Z6-2]
ENST00000389874; ENSP00000374524; ENSG00000124019. [Q9H5Z6-2]
ENST00000409685; ENSP00000386895; ENSG00000124019. [Q9H5Z6-1]
GeneIDi79843.
KEGGihsa:79843.
UCSCiuc002vnw.3. human. [Q9H5Z6-1]

Organism-specific databases

CTDi79843.
GeneCardsiFAM124B.
H-InvDBHIX0002887.
HGNCiHGNC:26224. FAM124B.
HPAiHPA050823.
neXtProtiNX_Q9H5Z6.
PharmGKBiPA162385815.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIF9. Eukaryota.
ENOG410YA6D. LUCA.
GeneTreeiENSGT00590000083134.
HOGENOMiHOG000112435.
HOVERGENiHBG107864.
InParanoidiQ9H5Z6.
OMAiRWCHHSS.
OrthoDBiEOG7T1RBN.
PhylomeDBiQ9H5Z6.
TreeFamiTF328699.

Miscellaneous databases

GenomeRNAii79843.
PROiQ9H5Z6.

Gene expression databases

BgeeiQ9H5Z6.
CleanExiHS_FAM124B.
GenevisibleiQ9H5Z6. HS.

Family and domain databases

InterProiIPR029380. FAM124.
[Graphical view]
PfamiPF15067. FAM124. 1 hit.
[Graphical view]
ProtoNetiSearch...

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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 92-455 (ISOFORM 2).
    Tissue: Placenta and Umbilical vein endothelial cell.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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 2).
    Tissue: Lung.

Entry informationi

Entry nameiF124B_HUMAN
AccessioniPrimary (citable) accession number: Q9H5Z6
Secondary accession number(s): A6NNC7, Q8NBZ4, Q8TAV7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: January 20, 2009
Last modified: June 8, 2016
This is version 91 of the entry and version 3 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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.