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MACF1 microtubule actin crosslinking factor 1 [ Homo sapiens (human) ]

Gene ID: 23499, updated on 7-Apr-2024

Summary

Official Symbol
MACF1provided by HGNC
Official Full Name
microtubule actin crosslinking factor 1provided by HGNC
Primary source
HGNC:HGNC:13664
See related
Ensembl:ENSG00000127603 MIM:608271; AllianceGenome:HGNC:13664
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACF7; LIS9; MACF; OFC4; ABP620; KIAA0754; Lnc-PMIF
Summary
This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
Expression
Ubiquitous expression in lung (RPKM 17.3), ovary (RPKM 13.9) and 25 other tissues See more
Orthologs
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Try the new Gene table
Try the new Transcript table

Genomic context

See MACF1 in Genome Data Viewer
Location:
1p34.3
Exon count:
104
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39084167..39487138)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38951565..39355064)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39549839..39952810)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39491963-39492549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39492550-39493135 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39493906-39494071 Neighboring gene uncharacterized LOC124904088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 800 Neighboring gene NANOG hESC enhancer GRCh37_chr1:39517634-39518135 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39530834-39531126 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 803 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:39568667-39569222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 804 Neighboring gene Sharpr-MPRA regulatory region 301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39599569-39600336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39605822-39606646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39606647-39607470 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:39607555-39608294 Neighboring gene RNA, U6 small nuclear 608, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39637465-39637991 Neighboring gene RNA, 5S ribosomal pseudogene 44 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:39648813-39650012 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:39657180-39657722 Neighboring gene Sharpr-MPRA regulatory region 6545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 806 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39679473-39680191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 697 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39691029-39691222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39698122-39698932 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39764567-39764723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 810 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:39812278-39813477 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39811169-39811670 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:39824023-39825222 Neighboring gene MACF1 eExon liver enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 699 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39933786-39933926 Neighboring gene uncharacterized LOC124904101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 811 Neighboring gene tRNA-Lys (anticodon CTT) 12-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 702 Neighboring gene bone morphogenetic protein 8a Neighboring gene 3-oxoacid CoA-transferase 2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Lissencephaly 9 with complex brainstem malformation
MedGen: C5193029 OMIM: 618325 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ42354, FLJ45612, FLJ46776, KIAA0465, KIAA0754, KIAA1251

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding NAS
Non-traceable Author Statement
more info
PubMed 
enables cadherin binding HDA PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables microtubule minus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in Golgi to plasma membrane protein transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of axon extension IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of epithelial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of focal adhesion assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of microtubule-based process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of microtubule-based process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of neuron projection arborization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in wound healing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in wound healing ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
colocalizes_with intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
microtubule-actin cross-linking factor 1
Names
620 kDa actin binding protein
actin cross-linking family protein 7
postulated migration inhibitory factor
trabeculin-alpha

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050926.1 RefSeqGene

    Range
    128279..410722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001394062.1NP_001380991.1  microtubule-actin cross-linking factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL137853, AL356055, AL365277, AL442071
    Consensus CDS
    CCDS90919.1
    UniProtKB/TrEMBL
    H3BPE1, H3BQK9
    Related
    ENSP00000455274.1, ENST00000564288.6
    Conserved Domains (11) summary
    smart00243
    Location:72217296
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    smart00150
    Location:69887112
    SPEC; Spectrin repeats
    smart00250
    Location:17641800
    PLEC; Plectin repeat
    PHA03307
    Location:73797553
    PHA03307; transcriptional regulator ICP4; Provisional
    COG0419
    Location:33643905
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG1196
    Location:41875025
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:36292
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:71467208
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:63266542
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:48775807
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl02488
    Location:11591338
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. NM_001397473.1NP_001384402.1  microtubule-actin cross-linking factor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL137853, AL365277
    UniProtKB/Swiss-Prot
    E9PMC2, O94854, Q6ZSB2
  3. NM_012090.5NP_036222.3  microtubule-actin cross-linking factor 1 isoform 1

    See identical proteins and their annotated locations for NP_036222.3

    Status: REVIEWED

    Source sequence(s)
    AB007934, AB029290, AF317696, AK127519, AL442071, DA512687, DR423112
    Consensus CDS
    CCDS435.1
    UniProtKB/TrEMBL
    A0A590UJG2
    Related
    ENSP00000354573.2, ENST00000361689.7
    Conserved Domains (8) summary
    smart00243
    Location:51625234
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    smart00150
    Location:49295053
    SPEC; Spectrin repeats
    cd00014
    Location:79181
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00051
    Location:50875149
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:42674483
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam05956
    Location:52515428
    APC_basic; APC basic domain
    pfam13499
    Location:50885148
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:20462253
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    39084167..39487138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    38951565..39355064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_015038.2: Suppressed sequence

    Description
    NM_015038.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
  2. NM_033044.3: Suppressed sequence

    Description
    NM_033044.3: This RefSeq was permanently suppressed because the CDS was partial.