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A2A2Y4 (FRMD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 73. 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:
FERM domain-containing protein 3
Alternative name(s):
Band 4.1-like protein 4O
Ovary type protein 4.1
Short name=4.1O
Gene names
Name:FRMD3
Synonyms:EPB41L4O
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length597 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer. Ref.8

Subcellular location

Membrane; Single-pass membrane protein Potential.

Tissue specificity

Ovary-specific. Ref.1

Developmental stage

Expressed in skeletal muscle, lower levels in thymus and brain. Ref.1

Sequence similarities

Contains 1 FERM domain.

Sequence caution

The sequence BAC04321.1 differs from that shown. Reason: Erroneous initiation.

The sequence EAW62650.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A2A2Y4-1)

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: A2A2Y4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     553-597: GIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS → VSMQ
Isoform 3 (identifier: A2A2Y4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-194: Missing.
     195-198: KNEL → MVFR
     553-597: GIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS → VSMQ
Isoform 4 (identifier: A2A2Y4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-344: Missing.
     345-398: SSKIQREPPE...EQEEELPLGE → MQAEETKGIG...LGSKVTARNT
     553-597: GIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS → VSMQ
Note: No experimental confirmation available.
Isoform 5 (identifier: A2A2Y4-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQ → MQLSK

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 597597FERM domain-containing protein 3
PRO_0000318098

Regions

Transmembrane531 – 55121Helical; Potential
Domain32 – 312281FERM

Natural variations

Alternative sequence1 – 344344Missing in isoform 4.
VSP_031162
Alternative sequence1 – 194194Missing in isoform 3.
VSP_031163
Alternative sequence1 – 4949MFASC…SCHIQ → MQLSK in isoform 5.
VSP_031164
Alternative sequence195 – 1984KNEL → MVFR in isoform 3.
VSP_031165
Alternative sequence345 – 39854SSKIQ…LPLGE → MQAEETKGIGITSMAKCLVK IQTRRSLQLHMVNHCNSNVF VRLLRLGSKVTARNT in isoform 4.
VSP_031166
Alternative sequence553 – 59745GIDLS…MLGCS → VSMQ in isoform 2, isoform 3 and isoform 4.
VSP_031167
Natural variant4851D → Y.
Corresponds to variant rs4877747 [ dbSNP | Ensembl ].
VAR_048366

Experimental info

Sequence conflict2481Q → R in AAN52119. Ref.1
Sequence conflict5541I → V in AAN52119. Ref.1

Sequences

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

Last modified February 20, 2007. Version 1.
Checksum: 0B11ABBDDDE0AE67

FASTA59768,772
        10         20         30         40         50         60 
MFASCHCVPR GRRTMKMIHF RSSSVKSLSQ EMRCTIRLLD DSEISCHIQR ETKGQFLIDH 

        70         80         90        100        110        120 
ICNYYSLLEK DYFGIRYVDP EKQRHWLEPN KSIFKQMKTH PPYTMCFRVK FYPHEPLKIK 

       130        140        150        160        170        180 
EELTRYLLYL QIKRDIFHGR LLCSFSDAAY LGACIVQAEL GDYDPDEHPE NYISEFEIFP 

       190        200        210        220        230        240 
KQSQKLERKI VEIHKNELRG QSPPVAEFNL LLKAHTLETY GVDPHPCKDS TGTTTFLGFT 

       250        260        270        280        290        300 
AAGFVVFQGN KRIHLIKWPD VCKLKFEGKT FYVIGTQKEK KAMLAFHTST PAACKHLWKC 

       310        320        330        340        350        360 
GVENQAFYKY AKSSQIKTVS SSKIFFKGSR FRYSGKVAKE VVEASSKIQR EPPEVHRANI 

       370        380        390        400        410        420 
TQSRSSHSLN KQLIINMEPL QPLLPSPSEQ EEELPLGEGV PLPKEENISA PLISSSPVKA 

       430        440        450        460        470        480 
AREYEDPPSE EEDKIKEEPL TISELVYNPS ASLLPTPVDD DEIDMLFDCP SRLELEREDT 

       490        500        510        520        530        540 
DSFEDLEADE NAFLIAEEEE LKEARRALSW SYDILTGHIR VNPLVKSFSR LLVVGLGLLL 

       550        560        570        580        590 
FVFPLLLLLL ESGIDLSFLC EIRQTPEFEQ FHYEYYCPLK EWVAGKVHLI LYMLGCS 

« Hide

Isoform 2 [UniParc].

Checksum: CD62C83272419CC6
Show »

FASTA55663,864
Isoform 3 [UniParc].

Checksum: B91E6436B98ECC42
Show »

FASTA36240,685
Isoform 4 [UniParc].

Checksum: BEAE61103185D1D1
Show »

FASTA21323,923
Isoform 5 [UniParc].

Checksum: 38AD8ADC22D97EE8
Show »

FASTA55363,664

References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary."
Ni X., Ji C., Cao G., Cheng H., Guo L., Gu S., Ying K., Zhao R.C., Mao Y.
J. Hum. Genet. 48:101-106(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
Tissue: Fetal 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. 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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 34-597 (ISOFORM 2).
Tissue: Cerebellum.
[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] (ISOFORM 1).
[4]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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 3 AND 4).
Tissue: Brain and Placenta.
[7]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 17-597 (ISOFORM 1).
Tissue: Kidney.
[8]"FRMD3, a novel putative tumour suppressor in NSCLC."
Haase D., Meister M., Muley T., Hess J., Teurich S., Schnabel P., Hartenstein B., Angel P.
Oncogene 26:4464-4468(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY137774 mRNA. Translation: AAN52119.1.
AK094281 mRNA. Translation: BAC04321.1. Different initiation.
AK297722 mRNA. Translation: BAG60076.1.
EF560742 mRNA. Translation: ABQ59052.1.
AL161786, AL137847 Genomic DNA. Translation: CAH72749.1.
AL161786, AL137847, AL450026 Genomic DNA. Translation: CAH72750.2.
AL137847, AL161786 Genomic DNA. Translation: CAI40734.1.
AL137847, AL161786, AL450026 Genomic DNA. Translation: CAI40735.2.
AL137847 Genomic DNA. Translation: CAI40736.1.
AL161786, AL137847, AL450026 Genomic DNA. Translation: CAM17460.1.
AL450026, AL137847, AL161786 Genomic DNA. Translation: CAM19643.1.
AL450026, AL137847, AL161786 Genomic DNA. Translation: CAM19644.1.
AL137847, AL161786, AL450026 Genomic DNA. Translation: CAM19673.1.
CH471089 Genomic DNA. Translation: EAW62647.1.
CH471089 Genomic DNA. Translation: EAW62649.1.
CH471089 Genomic DNA. Translation: EAW62650.1. Different initiation.
CH471089 Genomic DNA. Translation: EAW62651.1.
BC023560 mRNA. Translation: AAH23560.1.
BC037253 mRNA. Translation: AAH37253.1.
AK223597 mRNA. Translation: BAD97317.1.
CCDSCCDS43840.1. [A2A2Y4-1]
CCDS59131.1. [A2A2Y4-4]
CCDS59132.1. [A2A2Y4-3]
CCDS59133.1. [A2A2Y4-2]
RefSeqNP_001231888.1. NM_001244959.1. [A2A2Y4-2]
NP_001231889.1. NM_001244960.1. [A2A2Y4-5]
NP_001231890.1. NM_001244961.1. [A2A2Y4-3]
NP_001231891.1. NM_001244962.1. [A2A2Y4-4]
NP_777598.3. NM_174938.5. [A2A2Y4-1]
UniGeneHs.127535.
Hs.743606.

3D structure databases

ProteinModelPortalA2A2Y4.
SMRA2A2Y4. Positions 30-309.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActA2A2Y4. 3 interactions.

PTM databases

PhosphoSiteA2A2Y4.

Proteomic databases

MaxQBA2A2Y4.
PaxDbA2A2Y4.
PRIDEA2A2Y4.

Protocols and materials databases

DNASU257019.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304195; ENSP00000303508; ENSG00000172159. [A2A2Y4-1]
ENST00000328788; ENSP00000328615; ENSG00000172159. [A2A2Y4-4]
ENST00000376434; ENSP00000365617; ENSG00000172159. [A2A2Y4-3]
ENST00000376438; ENSP00000365621; ENSG00000172159. [A2A2Y4-2]
GeneID257019.
KEGGhsa:257019.
UCSCuc004amq.1. human. [A2A2Y4-4]
uc004amr.1. human. [A2A2Y4-2]
uc004ams.2. human. [A2A2Y4-1]
uc022biz.1. human. [A2A2Y4-3]
uc022bja.1. human. [A2A2Y4-5]

Organism-specific databases

CTD257019.
GeneCardsGC09M085857.
H-InvDBHIX0023043.
HGNCHGNC:24125. FRMD3.
HPAHPA017285.
MIM607619. gene.
neXtProtNX_A2A2Y4.
PharmGKBPA134903920.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331698.
HOVERGENHBG057180.
InParanoidA2A2Y4.
OMAFLCEIRQ.
OrthoDBEOG7M98FW.
PhylomeDBA2A2Y4.
TreeFamTF343477.

Gene expression databases

ArrayExpressA2A2Y4.
BgeeA2A2Y4.
GenevestigatorA2A2Y4.

Family and domain databases

Gene3D1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR019749. Band_41_domain.
IPR019750. Band_41_fam.
IPR000798. Ez/rad/moesin_like.
IPR014847. FERM-adjacent.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR019747. FERM_CS.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR018980. FERM_PH-like_C.
IPR011993. PH_like_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamPF08736. FA. 1 hit.
PF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view]
PRINTSPR00935. BAND41.
PR00661. ERMFAMILY.
SMARTSM00295. B41. 1 hit.
[Graphical view]
SUPFAMSSF47031. SSF47031. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEPS00660. FERM_1. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi257019.
NextBio92903.
PROA2A2Y4.
SOURCESearch...

Entry information

Entry nameFRMD3_HUMAN
AccessionPrimary (citable) accession number: A2A2Y4
Secondary accession number(s): A8MQB0 expand/collapse secondary AC list , B4DN14, Q53EP2, Q5JV59, Q5VZA1, Q86WP8, Q8IZ44, Q8N3Y5, Q8N9L2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 73 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 9

Human chromosome 9: entries, gene names and cross-references to MIM